ClinVar Miner

Submissions for variant NC_000006.12:g.(?_135358112)_(135358207_?)del

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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 RCV001031545 SCV001194851 pathogenic Familial aplasia of the vermis 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with AHI1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 23 of the AHI1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038).

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