ClinVar Miner

Submissions for variant NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004593261 SCV005079339 pathogenic not provided 2023-07-11 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on the interaction between CCM1 and CCM2 proteins, reducing the stability of the ternary CCM complex (Bergametti et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35128084, 25525273, 23595507, 31937560)
OMIM RCV003319556 SCV004023348 pathogenic Cerebral cavernous malformation 2 2023-08-04 no assertion criteria provided literature only

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