ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2415G>A (p.Ser805=)

dbSNP: rs754312452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001536157 SCV000557147 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001536157 SCV001752877 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278824 SCV004007588 uncertain significance Cardiovascular phenotype 2023-05-02 criteria provided, single submitter clinical testing The c.2415G>A variant (also known as p.S805S), located in coding exon 14 of the SCN5A gene, results from a G to A substitution at nucleotide position 2415. This nucleotide substitution does not change the serine at codon 805. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV005401456 SCV006061317 likely benign Cardiac arrhythmia 2022-11-06 criteria provided, single submitter clinical testing

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