ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.582dup (p.Trp195fs)

dbSNP: rs2082680996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Amsterdam Leukodystrophy Center, Amsterdam UMC RCV001250456 SCV001424849 pathogenic Metachromatic leukodystrophy 2020-06-24 criteria provided, single submitter clinical testing Heterozygous - novel
3billion RCV001250456 SCV003841693 pathogenic Metachromatic leukodystrophy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with ARSA related disorder (ClinVar ID: VCV000973783.1 / PMID: 32632536). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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