ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5313G>A (p.Leu1771=)

dbSNP: rs2061027209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656278 SCV001214237 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SCN5A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 1772 of the SCN5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN5A protein.
Color Diagnostics, LLC DBA Color Health RCV001842599 SCV001356478 likely benign Cardiac arrhythmia 2019-12-09 criteria provided, single submitter clinical testing

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