ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs749292402
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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 RCV001981360 SCV002218719 uncertain significance Brugada syndrome 2021-07-03 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 present in population databases (rs749292402, ExAC 0.02%). This sequence change affects the initiator methionine of the SCN10A mRNA. The next in-frame methionine is located at codon 93.

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