ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5028dup (p.Tyr1677fs)

dbSNP: rs748973626
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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 RCV001213179 SCV001384797 uncertain significance Brugada syndrome 2024-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1677Leufs*3) in the SCN10A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 280 amino acid(s) of the SCN10A protein. This variant is present in population databases (rs772552344, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 943069). 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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