ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) (rs1355690902)

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
Invitae RCV001064140 SCV001229021 pathogenic Joubert syndrome 2020-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg891*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of Joubert syndrome. However, in that individual a second pathogenic variant was not identified (PMID: 21068128). Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075354 SCV001240975 likely pathogenic Retinal dystrophy 2018-05-11 criteria provided, single submitter clinical testing
Breda Genetics srl RCV001254914 SCV001422499 pathogenic Joubert syndrome 3 2020-07-15 criteria provided, single submitter clinical testing The variant c.2671C>T (p.Arg891*) is reported as pathogenic for Joubert syndrome and likely pathogenic for retinal dystrophy in ClinVar (Variation ID: 858292). The variant creates a premature stop codon at amino acid position Arg891, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). There is no information on frequency in gnomAD, 1000 Genomes or NHLBI Exome Sequencing Project (ESP). This variant had already been reported by Otto et al. (2011) in a patient of German origin with Joubert syndrome and cerebellar vermis hypoplasia (PMID: 21068128).

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.