ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.803+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388501 SCV004100092 likely pathogenic Cerebral cavernous malformation 2 2023-09-22 criteria provided, single submitter clinical testing Variant summary: CCM2 c.803+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Three computational tools predict a significant impact on normal splicing, and predict that the variant abolishes a canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250028 control chromosomes (gnomAD). To our knowledge, no occurrence of c.803+1G>A in individuals affected with Cerebral Cavernous Malformation 2 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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