ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) (rs772548770)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778447 SCV000914695 uncertain significance Bardet-Biedl syndrome 4 2018-11-15 criteria provided, single submitter clinical testing The BBS4 c.1103A>G (p.Asp368Gly) missense variant was identified in one deceased fetus affected with Bardet-Biedl with Meckel-like syndrome in a homozygous state from consanguineous parents of Turkish descent who were heterozygous carriers for the variant. This variant is referred to as p.Asp348Gly in this publication (Karmous-Benailly et al. 2005). The p.Asp368Gly variant was absent from 100 control chromosomes and is reported at a frequency of 0.000131 in the African population of the Genome Aggregation Database but this is based on one allele only in a region of good sequence coverage, so it is presumed to be rare. A sensitive yeast two-hybrid-based 'off switch' assay for positive selection of interaction-disruptive variants, revealed the p.Asp368Gly variant to disrupt the interaction between BBS4 and the small subunit BBS18 (Woodsmith et al. 2017). Based on the limited evidence, the p.Asp368Gly variant is classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.