ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) (rs863225212)

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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 RCV000201562 SCV000256457 pathogenic Joubert syndrome 10 2015-02-23 criteria provided, single submitter research
GeneDx RCV000484195 SCV000566144 pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing The R890X nonsense variant in the OFD1 gene has been reported previously in association withJoubert syndrome (Bachmann-Gagescu et al., 2015). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. Additionally, many othernonsense and loss-of-function variants have been reported in the Human Gene Mutation Database inassociation with OFD1-related disorders (Stenson et al., 2014). Given the available evidence, we interpret R890X as a pathogenic variant.

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