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
  • See Evidence submitted by expert panel for details.

Variant: NM_001354304.2:c.442-1377_509+226del

CA916084427

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 6fa09283-e4f3-458b-aec9-b227b83fd0f3

HGVS expressions

NM_001354304.2:c.442-1377_509+226del
NC_000012.12:g.102866372_102868042del
CM000674.2:g.102866372_102868042del
NC_000012.11:g.103260150_103261820del
CM000674.1:g.103260150_103261820del
NC_000012.10:g.101784280_101785950del
NG_008690.1:g.54563_56233del
NG_008690.2:g.95371_97041del
ENST00000553106.6:c.442-1377_509+226del
ENST00000307000.7:c.427-1377_494+226del
ENST00000549111.5:n.538-1377_605+226del
ENST00000551988.5:n.530+9422_531-11038del
ENST00000553106.5:c.442-1377_509+226del
NM_000277.1:c.442-1377_509+226del
NM_000277.2:c.442-1377_509+226del
NM_001354304.1:c.442-1377_509+226del
NM_000277.3:c.442-1377_509+226del

Pathogenic

Met criteria codes 4
PM2 PVS1 PP4_Moderate PM3_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The p.Ex5del1670 (c.442-1377_509+226del1671) is a 1670bp deletion in Exon 5 of PAH, and is predicted to lead to a frameshift at His170, premature protein truncation, and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2). It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.A313V variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting). Classification: Pathogenic Supporting Criteria: PVS1; PM2; PM3_Supporting; PP4_Moderate
Met criteria codes
PM2
It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2).
PVS1
The p.Ex5del1670 (c.442-1377_509+226del1671) is a 1670bp deletion in Exon 5 of PAH, and is predicted to lead to a frameshift at His170, premature protein truncation, and NMD (PVS1).
PP4_Moderate
It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.A313V variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting).
PM3_Supporting
It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.A313V variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting).
Approved on: 2020-06-04
Published on: 2021-03-21
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