ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)

gnomAD frequency: 0.00002  dbSNP: rs761732432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376376 SCV001573494 likely pathogenic Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The AHI1 c.3235C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1. Based on this evidence we have classified this variant as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002493913 SCV002781654 likely pathogenic Joubert syndrome 3 2022-04-14 criteria provided, single submitter clinical testing
Invitae RCV002550234 SCV003299351 pathogenic Familial aplasia of the vermis 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1079*) 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 (rs761732432, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065721). For these reasons, this variant has been classified as Pathogenic.

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