ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.136G>C (p.Gly46Arg) (rs74603784)

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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, RCV000758110 SCV000886584 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.136G>C (p.Gly46Arg) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency not totally excluded). (PP4; PMID: 25920592). This variant is absent in population databases (PM2). This variant was detected with a novel large deletion of exons 12 and 13: c.1200-?_1359+?del (EX12_13del). Computational evidence support a deleterious effect. A different pathogenic missense change has been seen at p.G46 (p.G46S) In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM5, PP3.

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