ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) (rs386833750)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199602 SCV000253861 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1049*) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be compound heterozygous in multiple individuals with Joubert syndrome (PMID: 19777577, 19574260). Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000578695 SCV000680676 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing The R1049X variant in the CC2D2A gene has been reported previously in association with autosomal recessive Meckel-Gruber syndrome and COACH syndrome (Mougou-Zerelli et al., 2009; Doherty et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1049X variant is observed in 5/242,472 alleles in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R1049X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763525 SCV000894337 likely pathogenic COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000000783 SCV000020933 pathogenic COACH syndrome 2012-01-15 no assertion criteria provided literature only
OMIM RCV000023922 SCV000045213 pathogenic Joubert syndrome 9/15, digenic 2012-01-15 no assertion criteria provided literature only

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