ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)

dbSNP: rs1433294475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730430 SCV000858165 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001071662 SCV001236976 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-15 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. Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with CC2D2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 595006). For these reasons, this variant has been classified as Pathogenic.

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