Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003031248 | SCV003322459 | uncertain significance | Epilepsy, familial focal, with variable foci 3 | 2022-09-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. 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 effect of this variant on mRNA splicing is currently unknown. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change affects codon 250 of the NPRL3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPRL3 protein. |