ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) (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 Joubert syndrome 2019-12-16 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217533). Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). For these reasons, this variant has been classified as Pathogenic.

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