ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.495C>T (p.Thr165=)

gnomAD frequency: 0.00001  dbSNP: rs774855939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002342780 SCV002641745 uncertain significance Cardiovascular phenotype 2022-10-19 criteria provided, single submitter clinical testing The c.495C>T variant (also known as p.T165T), located in coding exon 4 of the SCN10A gene, results from a C to T substitution at nucleotide position 495. This nucleotide substitution does not change the threonine at codon 165. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005058395 SCV005703068 likely benign Brugada syndrome 2024-10-03 criteria provided, single submitter clinical testing

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