ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)

dbSNP: rs1558264626
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
Invitae RCV000809898 SCV000950080 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-25 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: 654015). This premature translational stop signal has been observed in individual(s) with clinical features of Senior-Loken syndrome (PMID: 20835237, 21866095). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr232*) 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).

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.