Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255060 | SCV000322040 | pathogenic | not provided | 2015-03-14 | criteria provided, single submitter | clinical testing | The R329X nonsense variant in the AHI1 gene has been reported previously in a patient with Joubert syndrome who also harbored a second AHI1 mutation (Kroes et al., 2008). It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Blueprint Genetics | RCV001074225 | SCV001239798 | pathogenic | Retinal dystrophy | 2019-04-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001390240 | SCV001591909 | pathogenic | Familial aplasia of the vermis | 2023-04-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 30760). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 18054307, 21937992). This variant is present in population databases (rs201391050, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg329*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038). |
Fulgent Genetics, |
RCV000023739 | SCV002800501 | pathogenic | Joubert syndrome 3 | 2022-05-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023739 | SCV000045030 | pathogenic | Joubert syndrome 3 | 2011-09-21 | no assertion criteria provided | literature only | |
Laboratory of Genetics in Ophthalmology, |
RCV001172379 | SCV001335437 | pathogenic | Joubert syndrome with ocular defect | no assertion criteria provided | research |