ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1597C>A (p.Arg533Ser)

dbSNP: rs775576991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842653 SCV001340548 uncertain significance Cardiac arrhythmia 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 533 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 SCN5A-related disorders in the literature. This variant has been identified in 5/247436 chromosomes 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003658780 SCV003465708 uncertain significance not provided 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 533 of the SCN5A protein (p.Arg533Ser). This variant is present in population databases (rs775576991, gnomAD 0.02%). 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: 918769). 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.
All of Us Research Program, National Institutes of Health RCV001842653 SCV005423956 uncertain significance Cardiac arrhythmia 2024-09-06 criteria provided, single submitter clinical testing

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