ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3289delG (rs386833751)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201550 SCV000256334 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000201550 SCV000593889 pathogenic Joubert syndrome 9 2016-05-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727050 SCV000705167 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000817119 SCV000957664 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1097Phefs*2) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770470219, ExAC 0.07%). This variant has been observed in combination with another CC2D2A variant in individuals affected with Joubert syndrome (PMID: 18950740, 22241855) and Meckel syndrome (PMID: 19466712). ClinVar contains an entry for this variant (Variation ID: 56303). Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049715 SCV000082122 probable-pathogenic Meckel syndrome type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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