Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001880023 | SCV002185543 | uncertain significance | Joubert syndrome 15 | 2022-10-13 | 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. 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 CEP41 protein function. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 204 of the CEP41 protein (p.Met204Val). This variant is present in population databases (rs782188831, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. ClinVar contains an entry for this variant (Variation ID: 982169). |
University of Washington Center for Mendelian Genomics, |
RCV001261711 | SCV001439020 | likely pathogenic | Familial Autism Spectrum Disorder | no assertion criteria provided | research |