ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.75del (p.Ile25fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV003479537 SCV004222629 pathogenic Phenylketonuria 2023-10-13 reviewed by expert panel curation The c.75del (p.Ile25MetfsTer13) variant in PAH results in a frameshift in exon 2, with NMD predicted. It was reported in a Chinese patient with hyperphenylalaninemia, with pathogenic variant p.Gln419Arg (PMID: 25456745). It is absent in gnomAD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PP4, PM2_supporting, PM3_supporting.

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