Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317563 | SCV000851066 | uncertain significance | Inborn genetic diseases | 2020-05-29 | criteria provided, single submitter | clinical testing | The p.M958I variant (also known as c.2874G>C), located in coding exon 15 of the SCN2A gene, results from a G to C substitution at nucleotide position 2874. The methionine at codon 958 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |