ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)

dbSNP: rs797045223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194226 SCV000246343 pathogenic Joubert syndrome 3 2015-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000599258 SCV000709788 pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing The G621X nonsense variant in the AHI1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, G621X is interpreted as a disease-causing variant
Invitae RCV000820311 SCV000961019 pathogenic Familial aplasia of the vermis 2018-12-18 criteria provided, single submitter clinical testing Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). This variant has not been reported in the literature in individuals with AHI1-related disease. ClinVar contains an entry for this variant (Variation ID: 210113). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly621*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000194226 SCV002813983 likely pathogenic Joubert syndrome 3 2022-04-27 criteria provided, single submitter clinical testing

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.