Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001209646 | SCV001381091 | uncertain significance | Bardet-Biedl syndrome | 2019-11-06 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with arginine at codon 23 of the BBS7 protein (p.Leu23Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS7-related conditions. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Advanced Center For Translational And Genetic Medicine, |
RCV003229023 | SCV003926573 | likely pathogenic | Bardet-Biedl syndrome 1 | 2023-05-10 | no assertion criteria provided | research |