ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) (rs267606641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522479 SCV000616637 pathogenic not provided 2021-10-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies in a zebrafish model demonstrate shorter cone outer segments (Lessieur et al., 2017); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 32404165, 28118669, 16453322)
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376341 SCV001573456 pathogenic Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The AHI1 c.1765C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1 , PP1, PS3 , PP3, PM2. Based on this evidence we have classified this variant as Pathogenic.
Invitae RCV001380010 SCV001577934 pathogenic Joubert syndrome 2020-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg589*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267606641, ExAC 0.01%). This variant has been observed to be homozygous in an individual affected with Joubert syndrome-related disorders (PMID: 16453322). ClinVar contains an entry for this variant (Variation ID: 2014). 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 RCV000002091 SCV000022249 pathogenic Joubert syndrome 3 2006-03-01 no assertion criteria provided literature only

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