ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)

dbSNP: rs137852841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000289897 SCV000329218 pathogenic not provided 2021-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 27535533, 14624391, 27722904, 27423615, 25525159)
Labcorp Genetics (formerly Invitae), Labcorp RCV000002800 SCV001578487 pathogenic Cerebral cavernous malformation 2 2021-06-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln107*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with cerebral cavernous malformations (PMID: 14624391). ClinVar contains an entry for this variant (Variation ID: 2681).
OMIM RCV000002800 SCV000022958 pathogenic Cerebral cavernous malformation 2 2003-12-01 no assertion criteria provided literature only

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