Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064995 | SCV001229933 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2019-12-24 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 187 of the NPRL3 protein (p.Pro187Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |