Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171056 | SCV000223620 | uncertain significance | not provided | 2014-01-28 | criteria provided, single submitter | clinical testing | p.Asn210Lys (AAC>AAA): c.630 C>A in exon 5 of the SCN1B gene (NM_001037.4). The Asn210Lys missense change in the SCN1B gene 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. The Asn210Lys variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The variant alters a position that is highly conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether Asn210Lys is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |