ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.696C>T (p.Val232=)

gnomAD frequency: 0.00006  dbSNP: rs542346344
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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 RCV003657687 SCV002336707 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011199 SCV004843814 likely benign Cardiac arrhythmia 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044994 SCV005031228 uncertain significance Cardiovascular phenotype 2024-02-13 criteria provided, single submitter clinical testing The c.696C>T variant (also known as p.V232V), located in coding exon 5 of the SCN5A gene, results from a C to T substitution at nucleotide position 696. This nucleotide substitution does not change the valine at codon 232. This variant has been detected in a Brugada syndrome cohort; however, clinical details were limited (García-Molina E et al. Clin Genet, 2013 Jun;83:530-8). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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