ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.127G>T (p.Glu43Ter) (rs1555209575)

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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 RCV000673220 SCV001146706 pathogenic Phenylketonuria 2019-04-03 reviewed by expert panel curation The c.127G>T (p.Glu43*) variant is a nonsense variant in exon 2 of 13 in PAH, predicted to undergo nonsense mediated decay with the truncated region critical to protein function. It has been reported in 2 individuals with PKU (BH4 deficiency not excluded). (PP4; PMID: 26503515). This variant is absent from population databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.
Counsyl RCV000673220 SCV000798398 likely pathogenic Phenylketonuria 2018-03-08 criteria provided, single submitter clinical testing

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