ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.176A>G (p.Asp59Gly) (rs199475672)

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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, RCV000758114 SCV000886590 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.176A>G (p.Asp59Gly) variant in PAH has not been reported in the literature to our knowledge. A reference from BioPKU/PAHdb is not located (Carducci C, 1999). It is absent from ExAC, gnomAD, 1000G, and ESP. There are conflicting predictions of pathogenicity: SIFT/Polyphen2: benign; MutationTaster: Damaging; REVEL=0.565. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088858 SCV000119453 not provided not provided no assertion provided not provided

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