ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)

dbSNP: rs765548101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063501 SCV001228348 pathogenic Cerebral cavernous malformation 2 2019-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 2468908, 14624391, 17160895, 18300272). This variant has not been reported in the literature in individuals with CCM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr118*) in the CCM2 gene. It is expected to result in an absent or disrupted protein product.

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