ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=)

dbSNP: rs2061011853
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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 RCV001842765 SCV001343872 likely benign Cardiac arrhythmia 2019-12-29 criteria provided, single submitter clinical testing
Invitae RCV003769944 SCV002146783 uncertain significance not provided 2021-10-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 has not been reported in the literature in individuals with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 920501). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 1933 of the SCN5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN5A protein.

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