ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.788T>C (p.Phe263Ser)

dbSNP: rs1565846863
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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 RCV000758097 SCV000886565 pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.788T>C (p.Phe263Ser) variant in PAH has been reported in 1 patient with hyperphenylalaninemia (BH4 deficiency not excluded) and was detected with known pathogenic variant c.1066-11G>A (PP4, PM3; PMID: 23357515). This variant is absent in population databases (PM2). This variant has 4% enzyme activity (PS3; PMID:20179079). Computational prediction tools and conservation analysis suggest that this variant may impact the protein (PP3). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PS3, PM2, PM3, PP3, PP4.

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