ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) (rs377177061)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114178 SCV000147730 likely pathogenic Meckel-Gruber syndrome 2019-12-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596321 SCV000707120 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV001056175 SCV001220600 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg132*) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377177061, ExAC 0.08%). This variant has not been reported in the literature in individuals with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 126242). Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074483 SCV001240069 likely pathogenic Retinal dystrophy 2017-09-15 criteria provided, single submitter clinical testing

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