ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.589A>C (p.Ile197Leu)

gnomAD frequency: 0.00001  dbSNP: rs1798899357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001937873 SCV002187196 uncertain significance Cerebral cavernous malformation 2 2022-06-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 197 of the CCM2 protein (p.Ile197Leu). ClinVar contains an entry for this variant (Variation ID: 1407762). 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: "Benign"; Align-GVGD: "Class C0").

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