ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.302G>T (p.Gly101Val)

dbSNP: rs74315455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803574 SCV000943452 pathogenic Metachromatic leukodystrophy 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 101 of the ARSA protein (p.Gly101Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with metachromatic leukodystrophy (PMID: 10477432, 26553228, 27374302, 27779215, 30057904). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Gly99Val (445G>T) or Gly15Val. ClinVar contains an entry for this variant (Variation ID: 68129). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSA protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058960 SCV000090481 not provided not provided no assertion provided not provided
Natera, Inc. RCV000803574 SCV002083902 pathogenic Metachromatic leukodystrophy 2020-08-04 no assertion criteria provided clinical testing

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