Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591420 | SCV000704080 | uncertain significance | not provided | 2017-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000706997 | SCV000836073 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384296 | SCV002690148 | uncertain significance | Inborn genetic diseases | 2021-10-12 | criteria provided, single submitter | clinical testing | The p.R429H variant (also known as c.1286G>A), located in coding exon 9 of the SCN9A gene, results from a G to A substitution at nucleotide position 1286. The arginine at codon 429 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |