ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)

dbSNP: rs1060505036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144279 SCV003834453 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003144279 SCV004293136 uncertain significance not provided 2024-06-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 338 of the ATP6V1A protein (p.Arg338Cys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with autosomal recessive cutis laxa (PMID: 28065471). ClinVar contains an entry for this variant (Variation ID: 417772). 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 ATP6V1A protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000477739 SCV000564223 pathogenic Autosomal recessive cutis laxa type 2D 2017-03-27 no assertion criteria provided literature only

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