ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp)

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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 RCV001093527 SCV001250570 uncertain significance Phenylketonuria 2019-11-05 reviewed by expert panel curation This c.1066T>G (p.Y356D) variant in PAH was reported in 1 Southern Chinese patient with PAH deficiency (PMID: 26503515). DHPR activity, biopterin and/or pteridine analysis was performed to rule out other causes of hyperphenylalaninemia. This variant is present in African American populations at a frequency of 0.00003 and Native Hawaiian populations at a frequency of 0.00022 (PAGE). In silico modeling predicts that this missense variant is damaging (SIFT), probably damaging (PolyPhen2), and disease causing (mutation taster). In summary, this variant meets criteria to be classified as Uncertain Significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4, PP3.

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