ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) (rs374144275)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201669 SCV000256301 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
GeneDx RCV000357854 SCV000330558 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The R3020X nonsense variant in the C5orf42 gene has been reported previously in an individual with Joubert syndrome who also had a second pathogenic C5orf42 variant identified (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.
Invitae RCV000697060 SCV000825650 pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2017-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3020*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs374144275, ExAC 0.07%). This variant has been reported as compound heterozygous with another pathogenic variant in an individual with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217569). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.

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