ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.614C>A (p.Ala205Glu) (rs796053233)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189298 SCV000242931 likely pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing p.Ala205Glu (GCG>GAG): c.614 C>A in exon 5 of the SCN8A gene (NM_014191.3). A A205E variant that is likely pathogenic has been identified in the SCN8A gene. The A205E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,100 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 A205E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a conserved position in transmembrane segment S3 in the first homologous domain, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, the A205E variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).

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