ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1096C>G (p.Pro366Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV002509876 SCV002818515 uncertain significance Phenylketonuria 2022-10-14 reviewed by expert panel curation This c.1096C>G (p.Pro366Ala) variant in PAH was seen in a patient with PKU in trans with the likely pathogenic variant p.Gly247Arg (PMID: 28982351). This variant was absent in population databases. Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4.

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