ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3655del (p.Cys1219fs)

gnomAD frequency: 0.00001  dbSNP: rs1559419984
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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 RCV000685375 SCV000812853 uncertain significance Brugada syndrome 2018-03-07 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. 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 with SCN10A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1219Alafs*8) in the SCN10A gene. It is expected to result in an absent or disrupted protein product.

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