ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)

dbSNP: rs786205426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171705 SCV000055213 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000190224 SCV000553693 uncertain significance Long QT syndrome 2022-06-28 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with long QT syndrome (PMID: 26132555). This variant is present in population databases (rs786205426, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 500 of the SNTA1 protein (p.Arg500Cys). ClinVar contains an entry for this variant (Variation ID: 191506). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics RCV002498861 SCV002816870 uncertain significance Long QT syndrome 12 2021-10-11 criteria provided, single submitter clinical testing
Medical Research Institute, Tokyo Medical and Dental University RCV000190224 SCV000222075 likely pathogenic Long QT syndrome no assertion criteria provided research

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