ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)

gnomAD frequency: 0.00001  dbSNP: rs755800734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517288 SCV000612715 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000517288 SCV000748184 pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32170606, 27153162, 24466005, 27561926, 15122722, 19088124, 23595507, 19088123, 18300272, 30701383, 31254430, 27535533, 32615293, 36629374)
Invitae RCV000644584 SCV000766284 pathogenic Cerebral cavernous malformation 2 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg19*) 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). This variant is present in population databases (rs755800734, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 15122722, 23595507, 24466005). ClinVar contains an entry for this variant (Variation ID: 447028). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003389649 SCV000852923 pathogenic CCM2-related disorder 2023-08-16 criteria provided, single submitter clinical testing The CCM2 c.55C>T variant is predicted to result in premature protein termination (p.Arg19*). This variant has been reported to be causative for cerebral cavernous malformations (CCMs) in multiple patients (Verlaan et al. 2004. Pub Med ID: 15122722; Stahl et al. 2008. PubMed ID: 18300272; Fusco et al. 2019. PubMed ID: 31254430). At PreventionGenetics, we have detected this variant in several families tested for CCM (Internal Data). Nonsense variants in CCM2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000644584 SCV002806992 pathogenic Cerebral cavernous malformation 2 2022-04-29 criteria provided, single submitter clinical testing

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