ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5016del (p.Asn1672fs)

dbSNP: rs2125980037
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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 RCV002041642 SCV002111790 uncertain significance Brugada syndrome 2021-12-17 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1672Lysfs*26) in the SCN10A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 285 amino acid(s) of the SCN10A protein.

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