ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.328G>A (p.Asp110Asn)

gnomAD frequency: 0.00019  dbSNP: rs41280666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806047 SCV000946027 uncertain significance Cerebral cavernous malformation 2 2023-08-14 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CCM2 protein function. ClinVar contains an entry for this variant (Variation ID: 650820). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. This variant is present in population databases (rs41280666, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 110 of the CCM2 protein (p.Asp110Asn).
Myllykangas group, University of Helsinki RCV002051726 SCV001983986 uncertain significance Vascular dementia 2021-10-01 no assertion criteria provided research

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