ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.473G>C (p.Arg158Pro) (rs5030843)

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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, RCV000758092 SCV000886559 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.473G>C (p.Arg158Pro) variant in PAH was reported in a patient with Mild Hyperphenylalaninemia (Phenylalanine level 380 umol/l) PMID: 8659548. It was detected with V388M (known pathogenic variant). It has an extremely low frequency in ExAC and gnomAD (MAF 0.00002). It is predicted deleterious in SIFT, Polyphen2, MutationTaster and REVEL=0.98. Two different pathogenic missense changes at this amino acid have been seen before (R158W, R158Q). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PM5, PP3, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088942 SCV000119543 not provided not provided no assertion provided not provided

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