ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)

dbSNP: rs1562921605
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711047 SCV000841374 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000711047 SCV000852905 likely pathogenic not provided 2016-03-11 criteria provided, single submitter clinical testing
Invitae RCV000002806 SCV004295197 likely pathogenic Cerebral cavernous malformation 2 2023-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu417Glyfs*3) in the CCM2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the CCM2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 14740320). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 585627). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002806 SCV000022964 pathogenic Cerebral cavernous malformation 2 2004-02-01 no assertion criteria provided literature only

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