Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230555 | SCV001403037 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2023-07-16 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.1111_1122dup, results in the insertion of 4 amino acid(s) of the NPRL3 protein (p.Pro371_Leu374dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780621579, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 957562). 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. |