ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3735_3804+243del

dbSNP: rs2125990836
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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 RCV001906019 SCV002151216 uncertain significance Brugada syndrome 2021-10-15 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 (ExAC no frequency). This variant results in the deletion of part of exon 21 (c.3735_3804+243del) of the SCN10A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease.

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