ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4193_4194dup (p.Val1399fs)

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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 RCV003799481 SCV004586384 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-17 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1399Metfs*3) 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).

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