ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

gnomAD frequency: 0.00001  dbSNP: rs201391050
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, 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, Institut Imagine RCV001172379 SCV001335437 pathogenic Joubert syndrome with ocular defect no assertion criteria provided research

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