ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3409G>A (p.Glu1137Lys)

dbSNP: rs760339455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092451 SCV000962598 uncertain significance not provided 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1138 of the SCN5A protein (p.Glu1138Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with SCN5A-related conditions (PMID: 32880476). ClinVar contains an entry for this variant (Variation ID: 663862). 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. 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.
Color Diagnostics, LLC DBA Color Health RCV001842002 SCV001344405 uncertain significance Cardiac arrhythmia 2022-06-09 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1138 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV001842002 SCV004832496 uncertain significance Cardiac arrhythmia 2023-06-28 criteria provided, single submitter clinical testing

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