ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.790del (p.Glu264fs)

dbSNP: rs1562917629
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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 RCV000721791 SCV000852930 likely pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing
Invitae RCV003768166 SCV004649725 pathogenic Cerebral cavernous malformation 2 2023-01-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 590666). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu264Lysfs*28) in the CCM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 18300272, 24689081). For these reasons, this variant has been classified as Pathogenic.

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