Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315304 | SCV000849063 | uncertain significance | Inborn genetic diseases | 2017-02-20 | criteria provided, single submitter | clinical testing | The p.I1886V variant (also known as c.5656A>G), located in coding exon 26 of the SCN8A gene, results from an A to G substitution at nucleotide position 5656. The isoleucine at codon 1886 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |