ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.526G>A (p.Gly176Ser)

dbSNP: rs2128749861
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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 RCV001888423 SCV002142586 uncertain significance Cerebral cavernous malformation 2 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 176 of the CCM2 protein (p.Gly176Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. 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 tolerated. 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.

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