Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001363575 | SCV001559692 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SCN9A-related conditions. This variant is present in population databases (rs750491990, gnomAD 0.008%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 992 of the SCN9A protein (p.Lys992Glu). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1054977). |