ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3942C>T (p.Thr1314=)

gnomAD frequency: 0.00001  dbSNP: rs760702095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001453817 SCV001657523 likely benign Brugada syndrome 2018-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307720 SCV004000511 uncertain significance Cardiovascular phenotype 2023-05-05 criteria provided, single submitter clinical testing The c.3942C>T variant (also known as p.T1314T), located in coding exon 22 of the SCN10A gene, results from a C to T substitution at nucleotide position 3942. This nucleotide substitution does not change the threonine at codon 1314. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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