ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)

dbSNP: rs1598211790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008006 SCV001167738 pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing The R63X variant in the CLTC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R63X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R63X as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262639 SCV001440579 pathogenic Intellectual disability, autosomal dominant 56 2019-01-01 criteria provided, single submitter clinical testing

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