ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) (rs797045223)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599258 SCV000709788 pathogenic not provided 2014-07-29 criteria provided, single submitter clinical testing The G621X nonsense variant in the AHI1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, G621X is interpreted as a disease-causing variant
Genetic Services Laboratory, University of Chicago RCV000194226 SCV000246343 pathogenic Joubert syndrome 3 2015-03-11 criteria provided, single submitter clinical testing
Invitae RCV000820311 SCV000961019 pathogenic Joubert syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly621*) 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 not been reported in the literature in individuals with AHI1-related disease. ClinVar contains an entry for this variant (Variation ID: 210113). 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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