ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)

dbSNP: rs797045948
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
Genetic Services Laboratory,University of Chicago RCV000194004 SCV000248835 pathogenic Senior-Loken syndrome 7 2015-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731515 SCV001983610 likely pathogenic Bardet-Biedl syndrome 2021-09-21 criteria provided, single submitter clinical testing Variant summary: SDCCAG8 c.567G>A (p.Trp189X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. Truncations downstream of this position have been reported in HGMD in association with Bardet-Biedl Syndrome. The variant was absent in 251464 control chromosomes. To our knowledge, no occurrence of c.567G>A in individuals affected with Bardet-Biedl Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. 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 pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.