Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064728 | SCV001229646 | uncertain significance | Bardet-Biedl syndrome | 2022-07-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 705 of the BBS12 protein (p.Thr705Met). This variant is present in population databases (rs372102223, gnomAD 0.02%). 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: 858778). 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: "Benign"; 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. |
Gene |
RCV001576577 | SCV001803791 | uncertain significance | not provided | 2020-04-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV001272728 | SCV002775582 | uncertain significance | Bardet-Biedl syndrome 12 | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001272728 | SCV003829795 | uncertain significance | Bardet-Biedl syndrome 12 | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272728 | SCV001454986 | uncertain significance | Bardet-Biedl syndrome 12 | 2020-01-24 | no assertion criteria provided | clinical testing |