ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.190C>A (p.His64Asn) (rs199475569)

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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 RCV000758122 SCV000886600 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.190C>A (p.His64Asn) variant in PAH has been reported in a Danish mild PKU patient. Serum Phe levels exceeded 600 umol/L and other causes of hyperphenylalaninemia had been ruled out. It was In cis with p.T63P. PMID: 8406445. The c.190C>A variant is absent from ExAC, gnomAD, 1000G, and ESP. A deleterious effect is predicted in 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 RCV000088862 SCV000119457 not provided not provided no assertion provided not provided

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