ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.548A>G (p.Glu183Gly)

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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 RCV004823289 SCV005442792 pathogenic Phenylketonuria 2024-09-06 reviewed by expert panel curation This c.548A>G (p.Glu183Gly) variant in PAH was reported in trans with pathogenic variants p.Arg111* and c.721C>T in 2 patients with PAH deficiency (>120 μmol/L Phe, BH4 deficiency excluded) (PMID: 28982351, 28754886). Residual enzyme activity was 9.1% for p.Glu183Gly compared to the wild-type PAH (PMID: 24327145). Computational evidence for this missense variant is predicted to be damaging (REVEL=0.977). This variant is absent from population databases gnomAD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PM2_supporting, PP4_moderate, PP3_strong, PS3_supporting.

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