ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1234dup (p.Arg412fs)

dbSNP: rs1331484727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721768 SCV000852904 likely pathogenic not provided 2013-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000819668 SCV000960341 pathogenic Cerebral cavernous malformation 2 2022-06-14 criteria provided, single submitter clinical testing This variant disrupts a region of the CCM2 protein in which other variant(s) (p.Glu417Glyfs*3) have been determined to be pathogenic (PMID: 14740320, 24689081). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 590645). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg412Profs*9) in the CCM2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CCM2 protein.

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