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.

Variant: NM_000277.2(PAH):c.801G>C (p.Gln267His)

CA229771

102840 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 88cc7aae-46c6-4cce-a1fb-557f845bdb01
Approved on: 2018-12-10
Published on: 2019-04-05

HGVS expressions

NM_000277.2:c.801G>C
NM_000277.2(PAH):c.801G>C (p.Gln267His)
NC_000012.12:g.102852856C>G
CM000674.2:g.102852856C>G
NC_000012.11:g.103246634C>G
CM000674.1:g.103246634C>G
NC_000012.10:g.101770764C>G
NG_008690.1:g.69747G>C
NG_008690.2:g.110555G>C
NM_000277.1:c.801G>C
NM_001354304.1:c.801G>C
NM_000277.3:c.801G>C
ENST00000307000.7:c.786G>C
ENST00000549247.6:n.560G>C
ENST00000553106.5:c.801G>C
More

Likely Pathogenic

Met criteria codes 4
PP3 PP4 PM3 PM2
Not Met criteria codes 1
PM5

Evidence Links 2

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The c.801G>C (p.Gln267His) variant in PAH has been reported in 1 Chinese patient with classical PKU. BH4 deficiencies were not assessed. PMID: 16256386, 19915519. It was detected with a known pathogenic variant p.R252Q. PMID: 16256386. It is absent from population databases. It is predicted deleterious in SIFT, Polyphen2, MutationTaster, and REVEL=0.952. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4.
Met criteria codes
PP3
Predicted deleterious in SIFT, Polyphen2, MutationTaster. REVEL=0.952.
PP4
Q267H found in 1 Chinese patient with classical PKU. BH4 deficiencies not assessed. PMID: 16256386, 19915519.

PM3
Q267H was detected with R252Q PMID: 16256386

PM2
Absent from ExAC, gnomAD, 1000G, ESP
Not Met criteria codes
PM5
2 other variants at this codon in ClinVar. Q276L is likely pathogenic
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.