ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1228T>A (p.Phe410Ile)

dbSNP: rs1874543567
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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 RCV001200016 SCV001370878 likely pathogenic Phenylketonuria 2020-06-01 reviewed by expert panel curation The variant c.1228T>A (p.Phe410Ile) in PAH has been reported in 1 Danish patient with mild/moderate PKU (BH4 deficiency not excluded) (PMID: 26542770; PP4). This same patient carried this variant in trans with the previously reported c.1315+1G>A variant which has been reported as Pathogenic in ClinVar (PMID: 26542770; PM3). This variant is absent from population databases (PM2) and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.969 (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4.

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