Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000735928 | SCV003027620 | likely pathogenic | Bardet-Biedl syndrome | 2023-05-28 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 not expected to disrupt BBS2 protein function. ClinVar contains an entry for this variant (Variation ID: 585182). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 28559085, 30614526). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs767373822, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 174 of the BBS2 protein (p.Asp174Glu). |
| Baylor Genetics | RCV003460994 | SCV004214032 | likely pathogenic | Bardet-Biedl syndrome 2 | 2024-02-21 | criteria provided, single submitter | clinical testing | |
| Laboratory of Medical Genetics |
RCV000735928 | SCV000839565 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |