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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

For general information about ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding a variant classification or evidence curation (e.g. population database queried, segregation counts or other evidence used) or to submit general comments about the evidence repo, please email us.

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NM_000277.2(PAH):c.561G>A (p.Trp187Ter)

CA229624

102736 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.561G>A
NM_000277.1:c.561G>A (p.Trp187Ter)
NM_001354304.1:c.561G>A (p.Trp187Ter)
NM_000277.3:c.561G>A
ENST00000307000.7:c.546G>A (p.Trp182Ter)
ENST00000549111.5:n.657G>A
ENST00000551988.5:n.582G>A
ENST00000553106.5:c.561G>A (p.Trp187Ter)
NC_000012.12:g.102855281C>T
CM000674.2:g.102855281C>T
NC_000012.11:g.103249059C>T
CM000674.1:g.103249059C>T
NC_000012.10:g.101773189C>T
NG_008690.1:g.67322G>A
NG_008690.2:g.108130G>A

Pathogenic

Met criteria codes 3
PVS1 PP4_Moderate PM2

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: Extremely low frequency in gnomAD. MAF=0.00002.; PP4_Moderate: Detected in 3 chromosomes of patients with PAH deficiency. BH4 deficiency ruled out. (PMID:8268925). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PVS1, PM2, PP4_Moderate).
Met criteria codes
PVS1
Nonsense variant
PP4_Moderate
Detected in 3 chromosomes of patients with PAH deficiency. BH4 deficiency ruled out.

PM2
Extremely low frequency in gnomAD. MAF=0.00002.
Approved on: 2018-08-10
Published on: 2019-04-06
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