ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.703dup (p.Arg235fs)

dbSNP: rs1336317768
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051209 SCV001215352 pathogenic Familial aplasia of the vermis 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg235Lysfs*12) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 847622). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074546 SCV001240137 likely pathogenic Retinal dystrophy 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV004773263 SCV005386275 pathogenic not provided 2024-04-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31964843, 33777383)
Fulgent Genetics, Fulgent Genetics RCV005036340 SCV005666357 likely pathogenic Joubert syndrome 3 2024-03-01 criteria provided, single submitter clinical testing

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