ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.617C>A (p.Ala206Glu)

dbSNP: rs777710102
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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 RCV001904430 SCV002123027 uncertain significance Cerebral cavernous malformation 2 2021-08-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. This variant has been observed in individual(s) with cerebral cavernous malformations (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 206 of the CCM2 protein (p.Ala206Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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