ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.813T>G (p.His271Gln) (rs1565846764)

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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, RCV000758104 SCV000886577 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.813T>G (p.His271Gln) variant in PAH has been reported in 3 individuals with PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 1829436, 18299955, 21307867). This variant is absent in population databases (PM2). This variant was detected with IVS10-11G>A, known pathogenic (PM3; PMID: 18299955). Computational evidence support 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, PP3.

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