ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)

gnomAD frequency: 0.00001  dbSNP: rs767373822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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 2023-05-30 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735928 SCV000839565 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.