ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.523C>G (p.Pro175Ala)

dbSNP: rs199475604
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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 RCV001093516 SCV001250548 uncertain significance Phenylketonuria 2020-01-30 reviewed by expert panel curation The c.523C>G (p.Pro175Ala) variant in PAH has been reported in a US patient with MHP (PMID: 8659548). It was detected with pathogenic variant p.A104D. This variant is absent from population databases. A deleterious effect is predicted in multiple in silico models. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3_supporting, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088970 SCV000119573 not provided not provided no assertion provided not provided

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