Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203613 | SCV001374786 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2022-06-24 | 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. ClinVar contains an entry for this variant (Variation ID: 935098). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. This variant is present in population databases (rs764927474, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 143 of the NPRL3 protein (p.His143Tyr). |