ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1066-2A>T (rs281865447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel, RCV000106339 SCV000886592 pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.1066-2A>T variant in PAH is absent from all population databases, is at a canonical splice site in an exon present in all biologically relevant transcripts, and has been identified in a patient in which a defect in BH4 metabolism was excluded as a cause of elevated phenylalanine. PMID: 21307867. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PVS1, PM2.
Inserm U 954, Faculté de Médecine de Nancy RCV000106339 SCV000143838 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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