ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu)

gnomAD frequency: 0.00001  dbSNP: rs144006909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001902770 SCV002150631 uncertain significance Long QT syndrome 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 495 of the SNTA1 protein (p.Ser495Leu). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. 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"). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224106 SCV002502990 uncertain significance not provided 2022-02-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490122 SCV002789548 uncertain significance Long QT syndrome 12 2021-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166925 SCV003879869 uncertain significance Cardiovascular phenotype 2023-01-30 criteria provided, single submitter clinical testing The p.S495L variant (also known as c.1484C>T), located in coding exon 8 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1484. The serine at codon 495 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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