ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.289-1G>A

dbSNP: rs1562907365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721777 SCV000852914 likely pathogenic not provided 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868914 SCV002229328 pathogenic Cerebral cavernous malformation 2 2020-12-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in individual(s) with cerebral cavernous malformations (PMID: 17277691, Invitae). This variant is also known as IVS 3 G-1T. ClinVar contains an entry for this variant (Variation ID: 590652). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the CCM2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CCM2 are known to be pathogenic (PMID: 18300272, 24689081).

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