ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) (rs1488232864)

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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 RCV000850224 SCV001370839 likely pathogenic Phenylketonuria 2020-06-26 reviewed by expert panel curation The c.1102G>A (p.Glu368Lys) variant in PAH has been reported in 1 individual with moderate PKU (BH4 deficiency excluded). (PP4_Moderate; PMID: 31355225). This variant has extremely low frequency in gnomAD: MAF=0.00001 (PM2). This variant was detected in trans with pathogenic variant c.1066-11G>A. Parents were also investigated to confirm their carrier status. (PM3). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3.
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV000850224 SCV000893130 pathogenic Phenylketonuria 2019-03-08 no assertion criteria provided clinical testing

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