{"id":"W4413259943","doi":"10.1016/j.hlc.2025.06.815","title":"CACNA1C c.4558C>A (p.Leu1520Ile) Variant of Uncertain Significance and Associated With Long QT Syndrome 8 is a Cav1.2 Gain-of-Function Mutation","year":2025,"lang":"en","type":"article","venue":"Heart Lung and Circulation","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"Medicine; Gain of function; Mutation; Long QT syndrome; Genetics; Internal medicine; QT interval; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003591593,0.002480345,0.0008516934,0.001706594,0.001270076,0.000717647,0.001596307,0.007072148,0.008740389],"category_scores_gemma":[0.002636205,0.0003595388,0.0009368227,0.001156799,0.001580169,0.0006712788,0.0007090722,0.001373689,0.002542244],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006991113,"about_ca_system_score_gemma":0.0006776006,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005869563,"about_ca_topic_score_gemma":0.003934236,"domain_scores_codex":[0.9993889,0.00007872598,0.000071358,0.0002148724,0.0001372156,0.0001088295],"domain_scores_gemma":[0.9982032,0.0007364482,0.0004367729,0.0000649745,0.0001166724,0.0004419769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001023574,0.0001274009,0.02009278,0.0001963349,0.0001740509,0.9122014,0.00065166,0.001141643,0.05150084,0.001965175,0.003269004,0.007656182],"study_design_scores_gemma":[0.0003982796,0.0006939336,0.1086037,0.0005005181,0.0005005174,0.8375067,0.0007045799,0.004620146,0.01771435,0.003970588,0.02447187,0.0003148079],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9662969,0.004092501,0.004583621,0.005013129,0.001574447,0.0002892349,0.00444292,0.0003799307,0.0133273],"genre_scores_gemma":[0.9923512,0.0003454241,0.001558673,0.0008915862,0.0005310642,0.00005777732,0.00079832,0.00006476482,0.003401176],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008740389,"threshold_uncertainty_score":0.02923954,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007334464732165965,"score_gpt":0.2461752919945477,"score_spread":0.2388408272623818,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}