ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)

gnomAD frequency: 0.00001  dbSNP: rs1437280900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039626 SCV001203163 pathogenic Cerebral cavernous malformation 2 2023-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 838138). This variant is also known as NM_001029835.2:c.902C>G (p.S301*). This premature translational stop signal has been observed in individual(s) with clinical features of cerebral cavernous malformations (PMID: 23595507, 24466005). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser280*) 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).
GeneDx RCV002511020 SCV002820506 pathogenic not provided 2024-01-13 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); Has not been previously published as pathogenic or benign to our knowledge

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