ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.4472C>T (p.Ala1491Val) (rs796053220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189281 SCV000242913 likely pathogenic not provided 2014-09-11 criteria provided, single submitter clinical testing p.Ala1491Val (GCC>GTC): c.4472 C>T in exon 25 of the SCN8A gene (NM_014191.3). The A1491V 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 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution alters a highly conserved position in the predicted cytoplasmic loop between the third and fourth homologous domains of the SCN8A protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A1491V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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