Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051084 | SCV001215217 | uncertain significance | Bardet-Biedl syndrome | 2022-08-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 67 of the BBS12 protein (p.Gly67Glu). This variant is present in population databases (rs767546051, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 847519). 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, |
RCV001832470 | SCV002775124 | uncertain significance | Bardet-Biedl syndrome 12 | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832470 | SCV002082480 | uncertain significance | Bardet-Biedl syndrome 12 | 2020-02-21 | no assertion criteria provided | clinical testing |