ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)

dbSNP: rs772989270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201635 SCV000256252 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
GeneDx RCV001731519 SCV001982625 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15467982, 28442542, 26003401, 16155189, 31589614)

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