ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)

dbSNP: rs863225136
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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 RCV000201656 SCV000256258 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
GeneDx RCV000480601 SCV000568101 pathogenic not provided 2015-10-16 criteria provided, single submitter clinical testing The c.2098_2099dupGT pathogenic variant in the AHI1 gene causes a frameshift starting with codon Tyrosine 701, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Tyr701PhefsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, c.2098_2099dupGT is considered to be a pathogenic variant.
Invitae RCV001064024 SCV001228897 pathogenic Familial aplasia of the vermis 2023-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr701Phefs*10) 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 (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217533). For these reasons, this variant has been classified as Pathogenic.

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