ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.430del (p.Glu144fs)

dbSNP: rs2128098409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591764 SCV001815827 likely pathogenic Joubert syndrome 3 2020-09-23 criteria provided, single submitter clinical testing
Invitae RCV003598051 SCV004547632 pathogenic Familial aplasia of the vermis 2023-07-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1213815). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu144Lysfs*39) 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).

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