Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456843 | SCV000548362 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411460 | SCV002716212 | uncertain significance | Inborn genetic diseases | 2019-12-28 | criteria provided, single submitter | clinical testing | The p.R597Q variant (also known as c.1790G>A), located in coding exon 11 of the SCN9A gene, results from a G to A substitution at nucleotide position 1790. The arginine at codon 597 is replaced by glutamine, 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. |