ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)

dbSNP: rs587777847
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
Eurofins Ntd Llc (ga) RCV000727146 SCV000706137 pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV001227923 SCV001400302 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 156529). This premature translational stop signal has been observed in individual(s) with ciliopathy features including renal disease and retinal dystrophy (PMID: 20835237, 22626039). This variant is present in population databases (rs773794973, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Thr482Leufs*12) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896).
OMIM RCV000144682 SCV000190015 pathogenic Bardet-Biedl syndrome 16 2012-09-01 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.