ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)

dbSNP: rs886041157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000399152 SCV000329217 pathogenic not provided 2015-11-18 criteria provided, single submitter clinical testing The Q72X nonsense variant in the CCM2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q72X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Given the available evidence, we interpret Q72X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855050 SCV002229882 pathogenic Cerebral cavernous malformation 2 2021-05-26 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. ClinVar contains an entry for this variant (Variation ID: 279739). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln72*) 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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