ClinVar Miner

Submissions for variant NC_000004.11:g.(?_15529050)_(15530369_?)del

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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 RCV003122489 SCV003791078 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the CC2D2A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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