ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.4164G>A (p.Trp1388Ter) (rs756253735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558477 SCV000637025 uncertain significance Brugada syndrome 2019-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1388 (p.Trp1388*) of the SCN10A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an 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.
GeneDx RCV000579049 SCV000680872 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing The W1388X variant in the SCN10A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1388X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W1388X as a variant of uncertain significance.

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