ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.864G>C (p.Leu288Phe) (rs62507327)

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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, RCV000758112 SCV000886587 uncertain significance Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.864G>C (p.Leu288Phe) variant in PAH is absent from population databases, and in silico predictors suggest a damaging effect on protein function. It is listed in hPAHdb 2009 McGill, but there is no clinical information on any patient. To our current knowledge (December, 2018), this variant has not been previously reported in the literature. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089142 SCV000119753 not provided not provided no assertion provided not provided

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