Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064722 | SCV001229640 | uncertain significance | Bardet-Biedl syndrome; McKusick-Kaufman syndrome | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 180 of the MKKS protein (p.Arg180Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. 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. |
Fulgent Genetics, |
RCV002482086 | SCV002778562 | uncertain significance | McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 | 2022-05-07 | criteria provided, single submitter | clinical testing |