Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001925333 | SCV002173745 | uncertain significance | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 52 of the CLCN2 protein (p.Pro52Ser). This variant is present in population databases (rs184790106, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CLCN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1403342). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLCN2 protein function with a negative predictive value of 80%. 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. |
Fulgent Genetics, |
RCV002482798 | SCV002780820 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2021-11-01 | criteria provided, single submitter | clinical testing |