ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe)

dbSNP: rs199473613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091802 SCV001248025 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091802 SCV004479059 uncertain significance not provided 2023-06-15 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 variant disrupts the p.Tyr1449 amino acid residue in SCN5A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24903439, 30193851, 33164571). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 871701). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1449 of the SCN5A protein (p.Tyr1449Phe).
All of Us Research Program, National Institutes of Health RCV004000215 SCV004842995 uncertain significance Cardiac arrhythmia 2024-09-23 criteria provided, single submitter clinical testing

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