ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.817T>C (p.Ser273Pro) (rs1565846754)

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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 RCV000758093 SCV000886560 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.817T>C (p.Ser273Pro) variant in PAH has been reported in a Japanese patient with classic PKU. (Biopterin deficiency excluded. PMID: 1114275, PP4_Moderate) It was detected with c.442-2G>A (not in ClinVar). This variant is absent from ExAC, gnomAD, 1000G and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.976. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

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