Evidence Repository - Clinical Genome Resources

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

Variant: NM_000277.2(PAH):c.963C>T (p.Leu321=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229873

102911 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 31e57f08-7be8-46c7-902d-8429b753f57c

Approved on: 2018-07-29

Published on: 2019-04-06

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

BS1 BS2 BP7 BS3_Supporting

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

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).

BS1

>0.02% as set by the PAH specific specifications

BS2

38 homozygotes in gnomAD

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

Curation History

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