ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2381T>C (p.Met794Thr)

dbSNP: rs1057520483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432154 SCV000515620 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN5A gene. The M794T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M794T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the M794T variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000432154 SCV004526030 uncertain significance not provided 2023-05-05 criteria provided, single submitter clinical testing 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. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 794 of the SCN5A protein (p.Met794Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 379063). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated.
All of Us Research Program, National Institutes of Health RCV004804997 SCV005423913 uncertain significance Cardiac arrhythmia 2024-08-06 criteria provided, single submitter clinical testing

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