ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) (rs201391050)

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Total submissions: 5
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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 Joubert syndrome 2020-03-19 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Joubert syndrome (PMID: 18054307, 21937992). ClinVar contains an entry for this variant (Variation ID: 30760). Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). For these reasons, this variant has been classified as Pathogenic.
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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