ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.652del (p.Gln218fs)

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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 RCV003060112 SCV003439972 pathogenic Cerebral cavernous malformation 2 2022-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 17277691). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln218Argfs*74) 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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