ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) (rs74315483)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169048 SCV000220207 likely pathogenic Metachromatic leukodystrophy 2014-03-30 criteria provided, single submitter literature only
GeneDx RCV000364541 SCV000329854 pathogenic not provided 2018-08-09 criteria provided, single submitter clinical testing The E255K missense variant in the ARSA gene has been reported previously as E253K in association with metachromatic leukodystrophy in individuals who were also compound heterozygous for a second variant in ARSA (Regis et al., 2002; Galla et al., 2013). Functional analysis found that E255K is associated with significantly reduced enzyme activity (Regis et al., 2002). Therefore, we interpret E255K to be a pathogenic variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000169048 SCV001367112 pathogenic Metachromatic leukodystrophy 2019-09-08 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PS3_M,PM3,PP3,PP4.
OMIM RCV000003237 SCV000023395 pathogenic Metachromatic leukodystrophy, late infantile 2002-04-01 no assertion criteria provided literature only

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