ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) (rs761403504)

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
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625890 SCV000746468 likely pathogenic Bardet-Biedl syndrome 7 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001567842 SCV001791605 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001584454 SCV001821221 uncertain significance not specified 2021-08-11 criteria provided, single submitter clinical testing Variant summary: BBS7 c.719G>A (p.Gly240Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251052 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.719G>A in individuals affected with Bardet-Biedl Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. However, a different nucleotide change at the same location (c.719G>T, p.Gly240Val) has been reported in a consangineous family in association with Bardet-Biedl syndrome (PMID 31469663). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.