ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3787C>T (p.Arg1263Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005178845 SCV005810266 uncertain significance Brugada syndrome 2024-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1263*) in the SCN10A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of SCN10A-related conditions (PMID: 27272739, 31977013). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects SCN10A function (PMID: 31977013). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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