ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.584dup (p.Ser196fs)

dbSNP: rs1875368328
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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 RCV001269337 SCV001448679 pathogenic Phenylketonuria 2020-10-30 reviewed by expert panel curation The c.584dup PAH variant has been identified in at least one patient with PKU (PMID: 25550961) and is absent from 1000G, ESP, and gnomAD databases. This variant leads to the frameshift Ser196ValfsTer4, creating a stop codon in exon 6 of 13 which is predicted to cause NMD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PP4, PM2.

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