ClinVar Miner

Submissions for variant NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) (rs104893680)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063683 SCV001228542 pathogenic Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 31 of the ARL6 protein (p.Thr31Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 15314642). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2044). This variant has been reported to affect ARL6 protein function (PMID: 19236846). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002125 SCV000022283 pathogenic Bardet-Biedl syndrome 3 2004-09-01 no assertion criteria provided literature only

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.