ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.510-19_667del

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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 RCV003479542 SCV004222642 pathogenic Phenylketonuria 2023-12-30 reviewed by expert panel curation The c.510-19_667del variant in PAH involves part of exon 6, predicted to result in frameshift and NMD (PVS1). It has been reported in 1 individual with PKU. (PP4; PMID: 23842451). This variant is absent from gnomAD (PM2_supporting). This variant was detected with p.G272* (Pathogenic in ClinVar; PM3). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2_supporting, PM3_supporting, PP4.

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