ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4532G>T (p.Arg1511Leu)

dbSNP: rs368219299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842065 SCV001733937 uncertain significance Cardiac arrhythmia 2020-12-09 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 1512 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 been identified in 1/251266 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.
All of Us Research Program, National Institutes of Health RCV001842065 SCV004828411 uncertain significance Cardiac arrhythmia 2024-04-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 1512 of the SCN5A protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with left ventricular noncompaction cardiomyopathy who also carried truncating variants in the DSG2 and TBX20 genes (PMID: 34202524). This variant has been identified in 1/251266 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.

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