ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.745+1G>C

dbSNP: rs1583984070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806137 SCV000946119 pathogenic Cerebral cavernous malformation 2 2018-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cerebral cavernous malformations (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CCM2 are known to be pathogenic (PMID: 14624391, 17160895). For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 6 of the CCM2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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