Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647797 | SCV000769600 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331227 | SCV002626640 | uncertain significance | Inborn genetic diseases | 2020-03-04 | criteria provided, single submitter | clinical testing | The p.T1398M variant (also known as c.4193C>T), located in coding exon 22 of the SCN9A gene, results from a C to T substitution at nucleotide position 4193. The threonine at codon 1398 is replaced by methionine, an amino acid with 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. |