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]
  • No ClinVar Id was directly found from the curated document
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001354304.2:c.933del

CA16020900

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 1c346e33-8454-47eb-841d-b259ce17c91d
Approved on: 2022-06-12
Published on: 2022-06-12

HGVS expressions

NM_001354304.2:c.933del
NC_000012.12:g.102846931del
CM000674.2:g.102846931del
NC_000012.11:g.103240709del
CM000674.1:g.103240709del
NC_000012.10:g.101764839del
NG_008690.1:g.75674del
NG_008690.2:g.116482del
ENST00000553106.6:c.935del
ENST00000307000.7:c.920del
ENST00000549247.6:n.694del
ENST00000551114.2:n.597del
ENST00000553106.5:c.935del
ENST00000635477.1:n.74-2498del
ENST00000635528.1:n.450del
NM_000277.1:c.935del
NM_000277.2:c.935del
NM_001354304.1:c.935del
NM_000277.3:c.935del
NM_001354304.2:c.935del
More

Pathogenic

Met criteria codes 3
PM2 PP4_Moderate PVS1
Not Met criteria codes 1
PM3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The frameshift variant c.933del occurs in exon 9 of 13 and is predicted to result in NMD. The variant is absent from population databases, including gnomAD. One patient has been reported (PMID: 21307867) with this variant. In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4_moderate.
Met criteria codes
PM2
The variant is absent from population databases including gnomAD, ExAC, 1000 Genomes, or ESP.
PP4_Moderate
One patient in PMID: 21307867 has a serum phenylalanine level higher than 0.18 mM, with exclusion of a defect of BH4 deficiency.
PVS1
The c.933del variant in exon 9 results in the p.Gly312ValfsTer29 frameshift which creates a premature stop codon in exon 10 of 13. This is predicted to result in NMD.
Not Met criteria codes
PM3
genotype not reported
Curation History
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