ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.528_532del (p.Leu177fs)

dbSNP: rs2128749865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001921045 SCV002190757 pathogenic Cerebral cavernous malformation 2 2023-03-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu177Cysfs*57) 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). ClinVar contains an entry for this variant (Variation ID: 1415667). For these reasons, this variant has been classified as Pathogenic.

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