ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1626+1G>A

gnomAD frequency: 0.00001  dbSNP: rs863225137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201568 SCV000256260 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001064139 SCV001229020 pathogenic Familial aplasia of the vermis 2023-10-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the AHI1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with clinical features of Joubert syndrome (PMID: 16453322; Invitae). ClinVar contains an entry for this variant (Variation ID: 217535). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002277553 SCV002567657 likely pathogenic not provided 2022-02-17 criteria provided, single submitter clinical testing Observed in a patient with Joubert syndrome who also harbored a second AHI1 variant; however segregation studies were not reported (Bachmann-Gagescu et al., 2015); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33004012, 25525159, 16453322, 26092869)

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