ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1756-5A>T

gnomAD frequency: 0.00002  dbSNP: rs770047247
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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 RCV001437171 SCV001640020 likely benign Brugada syndrome 2020-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298753 SCV004000483 uncertain significance Cardiovascular phenotype 2023-05-04 criteria provided, single submitter clinical testing The c.1756-5A>T intronic variant results from an A to T substitution 5 nucleotides upstream from coding exon 12 in the SCN10A gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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