ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.219_220del (p.Leu73fs)

dbSNP: rs1562906798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691065 SCV000818805 pathogenic Cerebral cavernous malformation 2 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu73Phefs*12) in the CCM2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CCM2-related disease. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 14624391, 17160895). For these reasons, this variant has been classified as Pathogenic.

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