ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.916-3C>T

dbSNP: rs373072247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542077 SCV001048991 likely benign Cerebral cavernous malformation 2 2023-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702515 SCV005203277 likely benign not specified 2024-07-08 criteria provided, single submitter clinical testing Variant summary: CCM2 c.916-3C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0001 in 250694 control chromosomes, predominantly at a frequency of 0.0012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in CCM2 causing Cerebral Cavernous Malformation 2 phenotype. To our knowledge, no occurrence of c.916-3C>T in individuals affected with Cerebral Cavernous Malformation 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 729777). Based on the evidence outlined above, the variant was classified as likely benign.

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