ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.773T>C (p.Leu258Pro) (rs1565846899)

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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, RCV000758119 SCV000886596 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.773T>C (p.Leu258Pro) variant in PAH has been reported in 3 individuals with mild PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 19786003, 23514811). This variant is absent in population databases (PM2). This variant was present in two homozygous patients. Genetic analysis in parents confirmed homozygosity. PMID: 23514811 (PM3-supporting). Computational evidence supports a deleterious effect . In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_supporting, PP3.

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