ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)

dbSNP: rs1874691554
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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 RCV001093510 SCV001250541 likely pathogenic Phenylketonuria 2019-12-22 reviewed by expert panel curation The c.1146C>G (p.Phe382Leu) variant in PAH has been reported in at least 1 individual with mild HPA (PP4; PMID: 18346471). The compound heterozygous individual also harbored the known pathogenic variant Arg252Trp (ClinVar 584) (PM3_suppporting). The c.1146C>G variant is absent in population databases (PM2). Computational prediction tools suggest that the variant may impact the protein (PP3). This variant generates the same amino acid change as c.1144T>C (p.Phe382Leu) which has been interpreted as Pathogenic by the ClinGen PAH Expert Panel (PS1). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PS1, PM2, PP4, PM3_supporting, PP3.

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