ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)

dbSNP: rs62508595
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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 RCV001199978 SCV001370804 likely pathogenic Phenylketonuria 2020-06-05 reviewed by expert panel curation The c.1069T>G (p.Cys357Gly) variant in PAH has been reported in 1 individual with classic PKU in trans with pathogenic variant p.R176X (PMID: 11139255). This variant is absent in population databases. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM3, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088746 SCV000119330 not provided not provided no assertion provided not provided

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