ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) (rs62508574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000758106 SCV000886579 uncertain significance Phenylketonuria 2018-12-08 reviewed by expert panel curation The c.1100T>C (p.Leu367Pro) variant in PAH is reported in a Japanese patient with PKU, BH4 deficiency was excluded. (PMID: 21307867) This variant is absent in population databases. It is predicted deleterious by SIFT, Polyphen-2 and MutationTaster. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088758 SCV000119342 not provided not provided no assertion provided not provided

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