ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu)

dbSNP: rs779090130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188973 SCV000242604 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing p.Val1582Leu (GTG>CTG): c.4744 G>C in exon 25 of the SCN1A gene (NM_001165963.1) The Val1582Leu missense change 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Val1582Leu is a conservative amino acid substitution as both Valine and Leucine are uncharged, non-polar residues. The variant occurs in the 2nd segment of the 4th transmembrane domain at a position that is not conserved across species. In silico algorithms are not consistent in their prediction of whether or not Val1582Leu is possibly damaging to the structure/function of the SCN1A protein. Therefore, based on the currently available information, it is unclear whether Val1582Leu is a disease-causing mutation or a rare benign variant.The variant is found in INFANT-EPI panel(s).

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