ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1099C>G (p.Leu367Val) (rs1565842281)

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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, RCV000758105 SCV000886578 uncertain significance Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.1099C>G (p.Leu367Val) variant in PAH is reported in 2 unrelated patients with PKU (from Italy and China). BH4 deficiencies were assessed in the Chinese patient. (PMID: 10693064, 26503515) It was detected in the Chinese patient with c.1174T>A (p.F392I) (not in ClinVar). This variant is absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2.

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