ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.305dup (p.His104fs)

dbSNP: rs2128747608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803624 SCV002049375 pathogenic Cerebral cavernous malformation 2 2022-08-12 criteria provided, single submitter clinical testing The CCM2 c.305dupC; p.His104ThrfsTer35 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. CCM2 loss-of-function is an established mechanism of disease, and multiple truncating variants downstream of c.305dupC are reported in individuals affected with cerebral cavernous malformations. Based on available information, this variant is considered to be pathogenic.

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