ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer)

dbSNP: rs2128637642
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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 RCV001947012 SCV002241373 pathogenic Cerebral cavernous malformation 2 2022-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 24689081). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu359Profs*2) in the CCM2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the CCM2 protein.

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