ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) (rs121434348)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058641 SCV001223227 pathogenic Joubert syndrome 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg351*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Joubert syndrome in a family (PMID: 15322546). ClinVar contains an entry for this variant (Variation ID: 2010). Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002087 SCV000022245 pathogenic Joubert syndrome 3 2004-09-01 no assertion criteria provided literature only

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