Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549345 | SCV000656695 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2019-11-20 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NPRL3-related disease. This sequence change replaces methionine with threonine at codon 530 of the NPRL3 protein (p.Met530Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. |