ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.199dup (p.Val67fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002814962 SCV003198756 pathogenic Cerebral cavernous malformation 2 2022-05-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This sequence change creates a premature translational stop signal (p.Val67Glyfs*19) in the CCM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 18300272, 24689081).

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