ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3242del (p.Pro1081fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005219056 SCV005853585 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1081Glnfs*18) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). This variant is present in population databases (rs777865405, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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