Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |