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Table 1 Automated patch clamp technology enables the phenotyping of KCNQ1, KCNH2 and SCN5A variants to be performed in a high-throughput manner

From: Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

Study: Expression system: Automated patch clamp platform: No of variants studied: Classification:
Homozygous state: Heterozygous State: P or LP: B or LB: GOF: VUS:
KCNQ1 [34] CHO-K1 Syncropatch 768 PE - Recording at RT 78 (30 training + 48 test variants) 22 44 16 3 15
KCNH2 [35] HEK-293 Syncropatch 384 PE - Recording at ~ 25 °C 23 30 26a 2a 0a 2a
SCN5A [36] HEK-293 T Syncropatch 384 PE - Recording at RT 83 (73 previously unstudied) N/A 54 17 0 12
  1. P Pathogenic, LP Likely Pathogenic, B Benign, LB Likely Benign, GOF Gain of Function, VUS Variant of Uncertain Significance. KCNQ1 variant classification is inferred from in text information and data presented in Supplementary Tables S4a and S4b [34]. KCNH2 variant classification is as reported in [35]. a Indicates that pathogenicity was classified in the heterozygotic state to mimic the patient phenotype [35]. SCN5A variant classification is taken from Supplementary Table S1 [36]. The Syncropatch 384 and 768 PE automated patch clamp platforms are developed by Nanion Technologies