ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) (rs1049618423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578984 SCV000680508 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing The R28X nonsense variant in the CLCN5 gene has been published as a pathogenic variant in association with Dent disease (Hoopes et al., 1998). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the R28X variant is not observed in large population cohorts (Lek et al., 2016). This variant is pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000995509 SCV001149712 pathogenic Dent disease type 1 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000578984 SCV001216268 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg28*) in the CLCN5 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 in individuals affected with Dent disease (PMID: 9734595, 24081861, 25907713). ClinVar contains an entry for this variant (Variation ID: 488682). Loss-of-function variants in CLCN5 are known to be pathogenic (PMID: 22876375, 25907713). For these reasons, this variant has been classified as Pathogenic.

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