ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.83_87del (p.Arg28fs)

dbSNP: rs2128729105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949433 SCV002239081 pathogenic Cerebral cavernous malformation 2 2021-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CCM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg28Lysfs*5) 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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