ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.472+1G>C

dbSNP: rs745710633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251154 SCV001426553 likely pathogenic Cerebral cavernous malformation 2 criteria provided, single submitter clinical testing
3billion RCV001251154 SCV002058922 pathogenic Cerebral cavernous malformation 2 2022-01-03 criteria provided, single submitter clinical testing The variant has been reported to be associated with CCM2 related disorder (ClinVar ID: VCV000974868, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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