ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.184C>G (p.Leu62Val)

gnomAD frequency: 0.00001  dbSNP: rs201860939
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 RCV001060812 SCV001225525 uncertain significance Bardet-Biedl syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 62 of the BBS2 protein (p.Leu62Val). This variant is present in population databases (rs201860939, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 855529). 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. 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.
Ambry Genetics RCV002554435 SCV003732960 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.184C>G (p.L62V) alteration is located in exon 2 (coding exon 2) of the BBS2 gene. This alteration results from a C to G substitution at nucleotide position 184, causing the leucine (L) at amino acid position 62 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832544 SCV002089311 uncertain significance Bardet-Biedl syndrome 2 2020-08-27 no assertion criteria provided clinical testing

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.