ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala)

dbSNP: rs368380083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001960788 SCV002242258 uncertain significance Cerebral cavernous malformation 2 2022-10-05 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: 1462905). 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 threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 394 of the CCM2 protein (p.Thr394Ala).

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