ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) (rs530569572)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523063 SCV000619530 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The L595X pathogenic variant in the C5orf42 gene has been reported previously in combination with another C5orf42 variant in several individuals with Joubert syndrome (Bachmann-Gagescu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The L595X variant is not observed in large population cohorts (Lek et al., 2016). We interpret L595X as a pathogenic variant.
UW Hindbrain Malformation Research Program,University of Washington RCV000201692 SCV000256313 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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