ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002580001 SCV002930175 pathogenic Familial aplasia of the vermis 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1023Aspfs*25) 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 not present in population databases (gnomAD no frequency). 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: 1902057). For these reasons, this variant has been classified as Pathogenic.

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