ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) (rs386833748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778721 SCV000915077 likely pathogenic CC2D2A-Related Disorders 2018-12-18 criteria provided, single submitter clinical testing The CC2D2A c.2773C>T (p.Arg925Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Arg925Ter variant has been reported in a compound heterozygous state with a splice site variant in a fetus diagnosed at 16 weeks gestation with cystic kidneys characteristic of Meckel syndrome, bile duct proliferation of the liver, occipital meningocele of the central nervous system, and polydactyly (Mougou-Zerelli et al. 2009). Akizu et al. (2014) found this variant in a homozygous state in an individual from a consanguineous union described as having classic Joubert syndrome. An immunoblot assay in fibroblasts from this homozygous individual revealed severely reduced protein levels. Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence and due to the potential impact of stop-gained variants, the p.Arg925Ter variant is classified as likely pathogenic CC2D2A-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049712 SCV000082119 probable-pathogenic Meckel syndrome type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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