ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.441T>C (p.Pro147=)

gnomAD frequency: 0.00001  dbSNP: rs1386014129
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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 RCV001269065 SCV001448288 uncertain significance Phenylketonuria 2020-10-16 reviewed by expert panel curation The c.441T>C (p.Pro147=) PAH variant has been reported in 1 Chinese patient with mild hyperphenylalaninemia (PMID: 30459323) detected with the PAH variant of uncertain significance p.Arg53His. A defect in BH4 metabolism was not excluded. This variant is absent from population databases. It is a synonymous variant with conflicting predictions by splicing prediction algorithms. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4.

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