ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)

dbSNP: rs1874735553
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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 RCV001093520 SCV001250559 pathogenic Phenylketonuria 2019-10-17 reviewed by expert panel curation This c.1029T>A (p.Y343*) variant in PAH was reported in one Chinese patient with PAH deficiency; DHPR activity, biopterin and/or pteridine analysis was performed to rule out other causes of hyperphenylalaninemia (PMID: 26503515). This variant is absent from ExAC and gnomAD. This nonsense variant in exon 10 out of 13 is predicted to undergo nonsense mediated mRNA decay. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_Moderate, PVS1.

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