ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2655C>T (p.Phe885=)

gnomAD frequency: 0.00001  dbSNP: rs755345820
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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 RCV001503278 SCV001708130 likely benign Brugada syndrome 2021-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458481 SCV002739449 uncertain significance Cardiovascular phenotype 2024-11-14 criteria provided, single submitter clinical testing The c.2655C>T variant (also known as p.F885F), located in coding exon 16 of the SCN10A gene, results from a C to T substitution at nucleotide position 2655. This nucleotide substitution does not change the amino acid at codon 885. This nucleotide position is 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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