Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647755 | SCV000769558 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325286 | SCV002608031 | uncertain significance | Inborn genetic diseases | 2020-06-15 | criteria provided, single submitter | clinical testing | The p.D1062N variant (also known as c.3184G>A), located in coding exon 16 of the SCN9A gene, results from a G to A substitution at nucleotide position 3184. The aspartic acid at codon 1062 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |