Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940893
rs28940893
0.750 GeneticVariation BEFREE In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively. 25965562

2015

dbSNP: rs28940893
rs28940893
0.750 GeneticVariation BEFREE Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). 20339381

2010

dbSNP: rs28940893
rs28940893
0.750 GeneticVariation BEFREE The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy. 16966551

2006

dbSNP: rs28940893
rs28940893
0.750 GeneticVariation BEFREE Our study has confirmed that c.459+1G>A and p.P426L are the most frequently found MLD-causing mutations in Europe. 16140556

2005

dbSNP: rs28940893
rs28940893
0.750 GeneticVariation BEFREE The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%). 9096767

1997

dbSNP: rs74315457
rs74315457
0.740 GeneticVariation BEFREE Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). 20339381

2010

dbSNP: rs74315457
rs74315457
0.740 GeneticVariation BEFREE The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy. 16966551

2006

dbSNP: rs74315457
rs74315457
0.740 GeneticVariation BEFREE The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%). 9096767

1997

dbSNP: rs74315457
rs74315457
0.740 GeneticVariation BEFREE It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type. 9007312

1996

dbSNP: rs74315455
rs74315455
0.720 GeneticVariation BEFREE The other allele, with a substitution of Gly-99 by Asp (allele 445A), had been identified in a Japanese adult form of MLD in a heterozygous combination. 8101083

1993

dbSNP: rs74315455
rs74315455
0.720 GeneticVariation BEFREE In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. 1673291

1991

dbSNP: rs199476357
rs199476357
0.710 GeneticVariation BEFREE We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. 16678723

2006

dbSNP: rs199476361
rs199476361
0.710 GeneticVariation BEFREE We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD. 16678723

2006

dbSNP: rs199476383
rs199476383
0.710 GeneticVariation BEFREE The F219V substitution causes reduction in enzyme activity to an extent unexpected for an adult patient with MLD. 15710861

2005

dbSNP: rs199476384
rs199476384
0.710 GeneticVariation BEFREE The mutations F247S and P136S were found in compound heterozygous with the "A" allele in two patients with juvenile onset MLD. 14680985

2003

dbSNP: rs199476385
rs199476385
0.710 GeneticVariation BEFREE Here, we report on the novel missense mutations (F247S, D381E, and A46</span>9G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD. 14680985

2003

dbSNP: rs60504011
rs60504011
0.710 GeneticVariation BEFREE Here, we report on the novel missense mutations (F247S, D381E, and A469G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD. 14680985

2003

dbSNP: rs6151425
rs6151425
0.710 GeneticVariation BEFREE The clinical features of the typical patient with genotype D381E/A469G (early onset with very rapid manifestation of disease) suggest the reason to distinguish an early infantile MLD variant. 14680985

2003

dbSNP: rs28940895
rs28940895
0.710 GeneticVariation BEFREE Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. 11456299

2001

dbSNP: rs199476390
rs199476390
0.710 GeneticVariation BEFREE Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. 10751093

2000

dbSNP: rs199476374
rs199476374
0.710 GeneticVariation BEFREE Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. 10381328

1999

dbSNP: rs80338819
rs80338819
0.710 GeneticVariation BEFREE The distribution of mutation D255H (frequency 19.4%) among patients with different MLD clinical presentation revealed a clear genotype-phenotype correlation paralleling that reported for mutation IVS2+1G-->A (frequency 25%). 10477432

1999

dbSNP: rs74315458
rs74315458
0.710 GeneticVariation BEFREE In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity. 1353340

1992

dbSNP: rs777431148
rs777431148
0.010 GeneticVariation BEFREE The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA. 28799099

2017

dbSNP: rs1410667898
rs1410667898
0.010 GeneticVariation BEFREE A metachromatic leukodystrophy was diagnosed by decreased arylsulfatase-A activity in leucocytes/fibroblasts and identification of a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6). 26890752

2016