ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1505A>G (p.His502Arg) (rs114718913)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001094938 SCV000447389 benign Bardet-Biedl syndrome 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000435007 SCV000523495 uncertain significance not provided 2016-02-21 criteria provided, single submitter clinical testing The H502R variant in the BBS7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports H502R was observed in 87/4406 alleles (1.97%) from individuals of African American background, indicating it may be a rare variant in this population. The H502R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H502R as a variant of uncertain significance.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709647 SCV000743645 benign Bardet-Biedl syndrome 1 2015-11-04 criteria provided, single submitter clinical testing
Invitae RCV000330267 SCV001001585 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter 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.