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.963C>T (p.Leu321=)

CA229873

102911 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 31e57f08-7be8-46c7-902d-8429b753f57c

HGVS expressions

NM_000277.2:c.963C>T
NM_000277.2(PAH):c.963C>T (p.Leu321=)
NC_000012.12:g.102846901G>A
CM000674.2:g.102846901G>A
NC_000012.11:g.103240679G>A
CM000674.1:g.103240679G>A
NC_000012.10:g.101764809G>A
NG_008690.1:g.75702C>T
NG_008690.2:g.116510C>T
NM_000277.1:c.963C>T
NM_001354304.1:c.963C>T
NM_000277.3:c.963C>T
ENST00000307000.7:c.948C>T
ENST00000549247.6:n.722C>T
ENST00000551114.2:n.625C>T
ENST00000553106.5:c.963C>T
ENST00000635477.1:n.74-2470C>T
ENST00000635528.1:n.478C>T

Benign

Met criteria codes 4
BP7 BS3_Supporting BS2 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
PAH-specific ACMG/AMP criteria applied: BS1: >0.02% as set by the PAH specific specifications; BP7: ; BS3_Supporting: cDNA method demonstrates 98% and intinic system demonstrates 81% residual enzyme activity; BS2: 38 homozygotes in gnomAD. In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BS1, BP7, BS3_Supporting, BS2).
Met criteria codes
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3_Supporting
cDNA method demonstrates 98% and intinic system demonstrates 81% residual enzyme activity
BS2
38 homozygotes in gnomAD
BS1
>0.02% as set by the PAH specific specifications
Approved on: 2018-07-29
Published on: 2019-04-06
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.