Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699349 | SCV000828055 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2022-07-11 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 159 of the NPRL3 protein (p.Arg159His). 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. ClinVar contains an entry for this variant (Variation ID: 576773). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (rs370299128, gnomAD 0.003%). |