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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  • 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
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  • 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

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

Pathogenic

Met criteria codes 3
PP4_Moderate PVS1 PM2
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
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.
PM2
The variant is absent from population databases including gnomAD, ExAC, 1000 Genomes, or ESP.
Not Met criteria codes
PM3
genotype not reported
Approved on: 2022-06-12
Published on: 2022-06-12
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