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

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
BS3_Supporting BS1 BS2 BP7

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
PAH 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
BS3_Supporting
cDNA method demonstrates 98% and intinic system demonstrates 81% residual enzyme activity
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
Approved on: 2018-07-29
Published on: 2019-04-06
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