Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001880024 | SCV002179820 | uncertain significance | Joubert syndrome 15 | 2022-07-12 | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CEP41 function (PMID: 30664616). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 982171). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 85 of the CEP41 protein (p.Ala85Pro). |
University of Washington Center for Mendelian Genomics, |
RCV001261714 | SCV001439023 | likely pathogenic | Familial Autism Spectrum Disorder | no assertion criteria provided | research |