{"id":"W4413259943","doi":"10.1016/j.hlc.2025.06.815","title":"CACNA1C c.4558C&gt;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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001841919,0.00009528646,0.0002926704,0.0001074583,0.00008264193,0.00000591134,0.000009600974,0.0001077659,0.00001108576],"category_scores_gemma":[0.00006085149,0.0000856624,0.00004274182,0.0002790039,0.00007970117,0.00006164779,0.000006527955,0.0001025762,5.004628e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005028421,"about_ca_system_score_gemma":0.0001041403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001132402,"about_ca_topic_score_gemma":0.00001399367,"domain_scores_codex":[0.9992664,0.00007714656,0.0002051025,0.0002087818,0.0001225334,0.0001199725],"domain_scores_gemma":[0.9995037,0.0001123388,0.000103426,0.00011312,0.0001326354,0.00003482587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004034277,0.0006485068,0.6570718,0.003736604,0.003014346,0.001051032,0.004480415,0.01148591,0.2951988,0.0069993,0.001102602,0.01117646],"study_design_scores_gemma":[0.001124961,0.0003420655,0.9856859,0.0004943081,0.0003697538,0.00037456,0.00006513545,0.009449769,0.001460671,0.0005299606,0.00001350282,0.00008945713],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957845,0.0006835355,0.002620185,0.0003253215,0.00005361469,0.0003266105,0.000007234597,0.00002250081,0.0001764664],"genre_scores_gemma":[0.9994963,0.00003140263,0.00005076952,0.0001554916,0.00001951606,0.00001503084,0.00006037005,0.00000752917,0.0001635939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3286141,"threshold_uncertainty_score":0.3493211,"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."}}