ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)

dbSNP: rs1554377652
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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 RCV000550896 SCV000644927 likely pathogenic Cerebral cavernous malformation 2 2017-11-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported in families affected with cerebral cavernous malformations (PMID: 27792856, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 212 of the CCM2 protein (p.Leu212Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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