ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) (rs118204053)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727257 SCV000707035 pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000727257 SCV000890217 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing The R950X nonsense variant in the CC2D2A gene has been reported previously in both the homozygous and compound heterozyous state in individuals with JSRD (Gorden et al., 2008; Xiao et al., 2017). The R950X variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
OMIM RCV000000781 SCV000020931 pathogenic Joubert syndrome 9 2008-11-01 no assertion criteria provided literature only
UW Hindbrain Malformation Research Program,University of Washington RCV000000781 SCV000256331 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research

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