Table 3
Evidence attributes of the identified variants of monogenic diabetes
Gene
Variant
PVS1
PS1-5
PM1
PM2
PM3
PM4
PM5
PM6
PP1
PP2
PP3
PP4
PP5
Final
ABCC8
c.1801G>A
+
+
+
US
ABCC8
c.307C>T
+
+
US
PDX1
c.97C>G
+
+
+
US
INS-IGF2
c.53G>A
+
+
+
US
PAX4
c.491G>A
+
+
+
US
HNF1A
c.1630G>A
+
+
US
US, uncertain significance.