ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) (rs1592947508)

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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 RCV000850225 SCV001370800 likely pathogenic Phenylketonuria 2020-03-26 reviewed by expert panel curation The c.1109A>G (p.Glu370Gly) variant in PAH has been reported in a Uygur patient with moderate PKU (BH4 deficiency ruled out) (PP4_Moderate; PMID: 31355225). This variant was detected with p.Val230Ile (Likely pathogenic in ClinVar) (PM3; PMID: 31355225). The variant is absent from population databases (PM2). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP4_Moderate.
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV000850225 SCV000893131 pathogenic Phenylketonuria 2019-03-08 no assertion criteria provided clinical testing

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