ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.826A>C (p.Lys276Gln)

dbSNP: rs1489981173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303337 SCV001492579 uncertain significance Long QT syndrome 2022-05-21 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 276 of the SNTA1 protein (p.Lys276Gln). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1006311).

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