ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) (rs1037293795)

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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 RCV000409716 SCV000886609 pathogenic Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.1147C>T (p.Gln383Ter) variant in PAH is a nonsense variant predicted to undergo NMD, present in all biologically relevant transcripts, absent from all populations databases. It has been identified in a patient with classic PKU as homozygous, and in trans with a pathogenic variant (R408W), although defect in BH4 metabolism was not excluded in either patient. (PMID: 24350308, 22763404). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4.
Counsyl RCV000409716 SCV000486081 likely pathogenic Phenylketonuria 2016-03-24 criteria provided, single submitter clinical testing

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