ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer)

dbSNP: rs1410559569
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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 RCV001387947 SCV001588716 pathogenic Familial aplasia of the vermis 2020-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). This variant has been observed in individual(s) with clinical features of an AHI1-related condition (PMID: 26729329). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu832*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product.

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