ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.667_674dup (p.Gln226fs)

dbSNP: rs2136649263
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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 RCV001375885 SCV001572841 pathogenic Phenylketonuria 2020-11-24 reviewed by expert panel curation This variant c.667_674dup (p.Gln226ThrfsTer?) in PAH was documented in a patient with PAH deficiency (>120 μmol/L Phe) in the Czech Republic (PMID: 23357515). This is a frameshift variant in exon 6 out of 13 coding exons, predicted to undergo nonsense mediated decay (NMD). The exon is present in biologically-relevant transcripts. This variant is absent in 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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