ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.679G>A (p.Asp227Asn)

dbSNP: rs770430978
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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 RCV002041620 SCV002113513 uncertain significance Cerebral cavernous malformation 2 2021-12-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 227 of the CCM2 protein (p.Asp227Asn). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is present in population databases (rs770430978, gnomAD 0.0009%).

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