Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001352940 | SCV001547243 | uncertain significance | Generalized epilepsy with febrile seizures plus | 2020-04-20 | criteria provided, single submitter | clinical testing | The variant c.1465T>G (p.Ser489Ala) in the SCN9A gene has not been reported in dbSNP, gnomAD or ClinVar. The nucleotide position is moderately conserved across 35 mammalian species (GERP RS: 3.39). In silico analysis gives inconsistent results. Based on ACMG variant interpretation guidelines we classify this variant as uncertain. |