ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.1759G>T (p.Glu587Ter) (rs1131691327)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494545 SCV000581881 likely pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the SCN8A gene. The E587X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E587X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, targeted parental testing indicates this variant is apparently de novo in this individual. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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