ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.791A>T (p.His264Leu) (rs199475580)

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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 RCV000758099 SCV000886569 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.791A>T (p.His264Leu) variant in PAH has not been reported in the literature, to our knowledge. References in BioPKU/PAHdb (Cardoso 2001) cannot be located. This variant is absent from ExAC, GnomAD, 1000G, and ESP. It is predicted deleterious in SIFT, Polyphen2, MutationTaster, and REVEL=0.949. The H264 residue interacts directly with the BH4 cofactor. (PMID: 12126628). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM1, PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089093 SCV000119700 not provided not provided no assertion provided not provided

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