ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter)

dbSNP: rs1131691659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493964 SCV000582585 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The L457X variant in the CC2D2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The L457X variant is not observed in large population cohorts (Lek et al., 2016). We interpret L457X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766778 SCV004568515 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-01-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 429902). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu457*) 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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