ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.4396C>T (p.Gln1466Ter) (rs199931920)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469463 SCV000547167 uncertain significance Brugada syndrome 2016-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1466 (p.Gln1466*) of the SCN10A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs199931920, ExAC 0.01%) but has not been reported in the literature in individuals with a SCN10A-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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