|
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
|
- 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
