The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

CA16020945

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 1a71c249-1eef-45c7-b581-c1b31819d55e

HGVS expressions

NM_000277.1:c.1124A>G
NM_000277.2:c.1124A>G
NM_001354304.1:c.1124A>G
NM_000277.3:c.1124A>G
NM_001354304.2:c.1124A>G
ENST00000307000.7:c.1109A>G
ENST00000549247.6:n.883A>G
ENST00000551114.2:n.786A>G
ENST00000553106.5:c.1124A>G
ENST00000635477.1:n.228A>G
ENST00000635528.1:n.639A>G
NC_000012.12:g.102843721T>C
CM000674.2:g.102843721T>C
NC_000012.11:g.103237499T>C
CM000674.1:g.103237499T>C
NC_000012.10:g.101761629T>C
NG_008690.1:g.78882A>G
NG_008690.2:g.119690A>G

Uncertain Significance

Met criteria codes 3
PM2 PP3 PP4
Not Met criteria codes 1
PM5

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The c.1124A>G (p.Gln375Arg) variant in PAH has been reported in an Iranian patient with mild PKU (PMID: 24301756). This variant is absent in population databases. A deleterious effect is predicted in SIFT, Polyphen-2, and MutationTaster. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.
Met criteria codes
PM2
Absent from controls in ExAC, 1000 genomes, and ESP.
PP3
Predicted deleterious by SIFT, MutationTaster, and Polyphen
PP4
Seen in one individual with mild PKU (608 uM). PMID: 24301756

Not Met criteria codes
PM5
p.Gln375Glu likely pathogenic
Approved on: 2020-06-19
Published on: 2020-06-19
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