ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.412GTC[1] (p.Val139del)

dbSNP: rs2064229655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302637 SCV001491852 uncertain significance Brugada syndrome 5 2020-06-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SCN1B-related conditions. This variant, c.415_417del, results in the deletion of 1 amino acid(s) of the SCN1B protein (p.Val139del), but otherwise preserves the integrity of the reading frame.

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