Evidence Repository - Clinical Genome Resources

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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Variant: NM_000277.3(PAH):c.810_814del (p.His271fs)

CA229783

102848 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f4b0f47a-cfe8-4afb-9326-17cb8d65cbca

HGVS expressions

NM_000277.3:c.810_814del

NM_000277.3(PAH):c.810_814del (p.His271fs)

NC_000012.12:g.102852844_102852848del

CM000674.2:g.102852844_102852848del

NC_000012.11:g.103246622_103246626del

CM000674.1:g.103246622_103246626del

NC_000012.10:g.101770752_101770756del

NG_008690.1:g.69756_69760del

NG_008690.2:g.110564_110568del

ENST00000553106.6:c.810_814del

ENST00000307000.7:c.795_799del

ENST00000549247.6:n.569_573del

ENST00000553106.5:c.810_814del

NM_000277.1:c.810_814del

NM_000277.2:c.810_814del

NM_001354304.1:c.810_814del

NM_001354304.2:c.810_814del

Pathogenic

PP4 PM2_Supporting PVS1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.810_814del (p.His271fs) variant in PAH has been reported in 1 Czech PKU patient; plasma Phe >20mg/100ml; BH4 deficiency not excluded (PMID: 9391881; PP4). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon (Coding exon number 7 out of 13 coding exons; 7 out of total exons) (PVS1). This variant is absent from population databases (PM2_supporting). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2_supporting, PP4.

PP4

PMID: 9391881 - H271fs (reported in paper as R270fs) reported in 1 Czech PKU patient; plasma Phe >20mg/100ml; BH4 deficiency not excluded

PM2_Supporting

Variant absent from population databases.

PVS1

Frameshift variant, predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 7 out of 13 coding exons (7 out of total exons).

Approved on: 2023-10-15

Published on: 2023-10-15

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