Table 3 Comparison of PAH enzyme activities reported in a meta-analysis publication Himmelreich et al. [72], the PAH locus-specific database (PAHvdb), and the PAH Variant Curation Expert Panel (VCEP) variant evidence for PS3 criteria

c.194T>C

p.(Ile65Thr)

26, 27, 33, 48, 60^†

33

25

c.311C>A

p.(Ala104Asp)

67^†

77

27

26

c.473G>A

p.(Arg158Gln)

2^†, 5, 9, 10, 29

10

0.2–1.8

c.533A>G

p.(Glu178Gly)

31

39

39

c.721C>T

p.(Arg241Cys)

25

57

25

25

c.754C>T

p.(Arg252Trp)

0, 0^†

15

0

1

c.755G>A

p.(Arg252Gln)

24

3

3

c.782G>A

p.(Arg261Gln)

27, 30, 43, 47, 52^†

23

44

15–30

c.842C>T

p.(Pro281Leu)

0, 1, 1^†

2

2

c.898G>T

p.(Ala300Ser)

32

65

31

31

c.916A>G

p.(Ile306Val)

12^†

25

39

18

c.926C>T

p.(Ala309Val)

70

12

42

30

c.1162G>A

p.(Val388Met)

15, 23^†, 43

83

28

15

c.1208C>T

p.(Ala403Val)

32, 100

33

66

43

c.1222C>T

p.(Arg408Trp)

0, 1, 3, 5

2

2

1.3–1.85

c.1223G>A

p.(Arg408Gln)

9^†, 33, 55, 84

41

46

46

c.1238G>C

p.(Arg413Pro)

2

11

35

< 3

c.1241A>G

p.(Tyr414Cys)

28, 38^†, 50, 80

57

50