ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.853C>T (p.His285Tyr)

dbSNP: rs199475636
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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 RCV001199999 SCV001370850 uncertain significance Phenylketonuria 2020-04-03 reviewed by expert panel curation The c.853C>T (p.His285Tyr) variant in PAH has been reported in 2 patients with PKU (BH4 deficiency excluded) (PMID: 9634518, 26503515) This variant is absent from population databases. Multiple lines of computational evidence support a deleterious effect. 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 RCV000089140 SCV000119751 not provided not provided no assertion provided not provided

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