ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)

dbSNP: rs1554365511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526565 SCV000644925 pathogenic Cerebral cavernous malformation 2 2016-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 16 (p.Val14_Ser15insIle*) of the CCM2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CCM2 are known to be pathogenic (PMID: 14624391). For these reasons, this variant has been classified as Pathogenic.

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