ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.48dup (p.Asp17Ter)

dbSNP: rs1592991176
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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 RCV000993599 SCV001146690 pathogenic Phenylketonuria 2019-08-11 reviewed by expert panel curation Pathogenic: The c.48dup (p.D17*) variant has been reported in one individual with classic PKU, who carried a second pathogenic variant in PAH (p.L48S) (PM3, PP4; PMID: 18299955). This variant is absent from gnomAD, 1000 Genomes, and ESP databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3-supporting, PM2, PP4.
Baylor Genetics RCV000993599 SCV004209704 pathogenic Phenylketonuria 2023-02-14 criteria provided, single submitter clinical testing

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