ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

gnomAD frequency: 0.00001  dbSNP: rs751734985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001264829 SCV001443027 pathogenic Joubert syndrome 3 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3
Revvity Omics, Revvity RCV001264829 SCV002021195 pathogenic Joubert syndrome 3 2020-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001264829 SCV002812467 pathogenic Joubert syndrome 3 2022-02-06 criteria provided, single submitter clinical testing
Invitae RCV002541620 SCV003021589 pathogenic Familial aplasia of the vermis 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg610*) 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). This variant is present in population databases (rs751734985, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 16541367, 28097321). ClinVar contains an entry for this variant (Variation ID: 984718). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001264829 SCV004801224 pathogenic Joubert syndrome 3 2024-03-14 criteria provided, single submitter research

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