ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.362T>C (p.Phe121Ser)

dbSNP: rs1565859485
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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 RCV000758109 SCV000886583 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.362T>C (p.Phe121Ser) variant in PAH is reported in 1 patient with hyperphenylalaninemia. A BH4 metabolism defect was excluded. (PMID: 26701937) This variant is absent from ExAC, gnomAD, 1000G, and ESP. It is predicted deleterious in SIFT, Polyphen2, MutationTaster, and REVEL=0.977. 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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