ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.607dup (p.Cys203fs)

dbSNP: rs1875366372
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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 RCV001269076 SCV001448302 pathogenic Phenylketonuria 2020-10-15 reviewed by expert panel curation This variant c.607dup (p.Cys203LeufsTer3) in PAH was reported in at least 1 Czech patient with PAH deficiency (paper did not specify how many patients had this variant) (PMID: 23357515), although a defect in BH4 metabolism was not excluded. This is a frameshift variant in exon 6 out of 13 coding exons, predicted to undergo nonsense mediated mRNA decay, as it is not located in the 3'-most exon or the 3'-most 50 bp of the penultimate exon. The exon is present in biologically-relevant transcripts. This variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

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