ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2742del (p.Leu915fs)

dbSNP: rs1583179845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987785 SCV001137238 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002549687 SCV003314985 pathogenic Familial aplasia of the vermis 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu915Cysfs*64) 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 premature translational stop signal has been observed in individual(s) with clinical features of AHI1-related conditions (PMID: 32865313). ClinVar contains an entry for this variant (Variation ID: 802271). For these reasons, this variant has been classified as Pathogenic.

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