Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206018 | SCV001377305 | uncertain significance | Bardet-Biedl syndrome | 2022-07-11 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 65 of the WDPCP protein (p.Lys65Glu). This variant is present in population databases (rs750924240, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 937073). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV002497702 | SCV002814687 | uncertain significance | Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 | 2022-03-12 | criteria provided, single submitter | clinical testing |