ClinVar Miner

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

dbSNP: rs62507286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV003479003 SCV004222638 pathogenic Phenylketonuria 2023-10-15 reviewed by expert panel curation 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.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089107 SCV000119714 not provided not provided no assertion provided not provided

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