ClinVar Miner

Submissions for variant NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) (rs786205426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000171705 SCV000055213 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000190224 SCV000553693 uncertain significance Long QT syndrome 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 500 of the SNTA1 protein (p.Arg500Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (rs786205426, ExAC no frequency). This variant has been reported in an individual with suspected long QT syndrome (PMID: 26132555). ClinVar contains an entry for this variant (Variation ID: 191506). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Medical Research Institute,Tokyo Medical and Dental University RCV000190224 SCV000222075 likely pathogenic Long QT syndrome no assertion criteria provided research

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