Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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CA16020714

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: cf68f601-95b4-4ec1-859a-aaa4db7cfa24

HGVS expressions

NM_000277.1:c.13del
NC_000012.12:g.102917119del
CM000674.2:g.102917119del
NC_000012.11:g.103310897del
CM000674.1:g.103310897del
NC_000012.10:g.101835027del
NG_008690.1:g.5485del
NG_008690.2:g.46293del
NM_000277.2:c.13del
NM_001354304.1:c.13del
NM_000277.3:c.13del
ENST00000307000.7:c.-135del
ENST00000546844.1:c.13del
ENST00000547319.1:n.324del
ENST00000549111.5:n.109del
ENST00000551337.5:c.13del
ENST00000551988.5:n.102del
ENST00000553106.5:c.13del
ENST00000635500.1:n.29-4220del

Pathogenic

Met criteria codes 3
PVS1 PP4 PM2

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The PAH: c.13delG variant is a frameshift variant occurring in exon 1 of 13 in the canonical transcript of PAH, a gene fulfilling the most recent criteria for LOF being a known disease mechanism (see PMID: 30192042) (PVS1). The variant has been previously reported the heterozygous state in 1 Chinese PKU case (PMID: 26503515); no further information regarding the patient’s phenotype or the other accompanying allele was given (PP4). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).
Met criteria codes
PVS1
The PAH: c.13delG variant is a frameshift variant occurring in exon 1 of 13 in the canonical transcript of PAH, a gene fulfilling the most recent criteria for LOF being a known disease mechanism (see PMID: 30192042) (PVS1).
PP4
The variant has been previously reported the heterozygous state in 1 Chinese PKU case (PMID: 26503515); no further information regarding the patient’s phenotype or the other accompanying allele was given. However, the publication states that PKU was diagnosed via enzyme levels and that for all patients, data regarding dihydropteridine reductase activity, urinary biopterin and neopterin ratio were collected (PP4 vs. PP4_Moderate? – would favor PP4 since the data itself is not given here).
The variant has been previously reported the heterozygous state in 1 Chinese PKU case (PMID: 26503515); no further information regarding the patient’s phenotype or the other accompanying allele was given. However, the publication states that PKU was diagnosed via enzyme levels and that for all patients, data regarding dihydropteridine reductase activity, urinary biopterin and neopterin ratio were collected (PP4 vs. PP4_Moderate? – would favor PP4 since the data itself is not given here). PubMed:26503515
PM2
The variant is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2)
Approved on: 2019-02-26
Published on: 2019-08-11
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