Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001067371 | SCV001232429 | pathogenic | Bardet-Biedl syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 602 of the BBS10 protein (p.Val602Leu). This variant is present in population databases (rs778431173, gnomAD 0.0009%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035, 22410627; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 860963). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS10 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003462601 | SCV004217418 | pathogenic | Bardet-Biedl syndrome 10 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
| Advanced Center For Translational And Genetic Medicine, |
RCV003229015 | SCV003926579 | likely pathogenic | Bardet-Biedl syndrome 1 | 2023-05-10 | no assertion criteria provided | research |