ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.305del (p.Gly102fs) (rs1433294475)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730430 SCV000858165 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001071662 SCV001236976 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu67Serfs*7) 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 observed in combination with another CC2D2A variant in an individual affected with CC2D2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 595006). Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.

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