Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| First Genomix Gene Laboratory, |
RCV005411280 | SCV006079715 | pathogenic | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2025-01-05 | criteria provided, single submitter | clinical testing | As part of Carrier Screening testing performed at First Genomix, this variant was identified in a heterozygous state in a patient who is not affected with this condition. |
| Baylor Genetics | RCV000004831 | SCV004213996 | likely pathogenic | Bardet-Biedl syndrome 2 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001002877 | SCV001586209 | pathogenic | Bardet-Biedl syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 75 of the BBS2 protein (p.Val75Gly). This variant is present in population databases (rs121908174, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 11285252, 28143435, 31456290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4569). 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 BBS2 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects BBS2 function (PMID: 20498079). For these reasons, this variant has been classified as Pathogenic. |
| Sharon lab, |
RCV001002877 | SCV001160910 | pathogenic | Bardet-Biedl syndrome | 2019-06-23 | no assertion criteria provided | research | |
| Counsyl | RCV000004831 | SCV000796082 | likely pathogenic | Bardet-Biedl syndrome 2 | 2017-12-08 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |
| OMIM | RCV000004831 | SCV000025007 | pathogenic | Bardet-Biedl syndrome 2 | 2001-04-01 | no assertion criteria provided | literature only |