From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
PAH Variant | Percentage of enzyme activity by source | ||||
---|---|---|---|---|---|
cDNA | Protein | Himmelreich et al. [72] (PMID: 30037505) | PAHvdb | VCEP evidence for PS3 assertion | |
Literature Review | Assay* | ||||
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 |