ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2623+1G>T

dbSNP: rs751823180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791182 SCV000930463 pathogenic Joubert syndrome 3 2019-04-27 criteria provided, single submitter clinical testing
Mendelics RCV000987786 SCV001137239 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856246 SCV002234606 pathogenic Familial aplasia of the vermis 2023-06-06 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: 638504). Disruption of this splice site has been observed in individual(s) with Joubert syndrome (PMID: 32865313). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 18 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).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818031 SCV005072826 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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