ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1205del (p.Pro402fs)

dbSNP: rs794729195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987790 SCV001137243 likely pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001852379 SCV002245811 pathogenic Familial aplasia of the vermis 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro402Leufs*3) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 29186038). ClinVar contains an entry for this variant (Variation ID: 202167). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000184013 SCV000236544 likely pathogenic Joubert syndrome 3 2012-04-18 no assertion criteria provided clinical testing

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