ClinVar Miner

Submissions for variant NM_001293306.2(SCN10A):c.4870_4875delinsATCTACTCCA (p.Gly1624fs) (rs1553613078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559737 SCV000637028 uncertain significance Brugada syndrome 2017-07-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SCN10A gene (p.Gly1625Ilefs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 332 amino acids of the SCN10A protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SCN10A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.

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