ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.224A>G (p.Asp75Gly)

dbSNP: rs1565866547
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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 RCV000758118 SCV000886595 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.224A>G (p.Asp75Gly) variant in PAH is reported in 1 Chinese PKU patient. BH4 deficiency was assessed. (PMID: 26503515) It is absent from ExAC, gnomAD, 1000G, and ESP. Computational evidence is conflicting. Another missense change at this amino acid is interpreted as likely pathogenic by our PAH VCEP, c.224A>T (p.Asp75Val). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP4.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000758118 SCV005415811 uncertain significance Phenylketonuria criteria provided, single submitter clinical testing PM2_Supporting+PM5_Supporting+PP4+PM3

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