ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.674C>T (p.Pro225Leu)

dbSNP: rs62517204
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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 RCV001200014 SCV001370873 likely pathogenic Phenylketonuria 2020-03-08 reviewed by expert panel curation The c.674C>T (p.Pro225Leu) variant in PAH has been reported in 2 individuals with PKU (BH4 deficiency excluded (PMID: 21307867). This variant has extremely low frequency in gnomAD MAF=0.000008800. Computational evidence support a deleterious effect. The p.Pro225Thr variant is interpreted as pathogenic. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM5, PP3.

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