ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)

dbSNP: rs1874693635
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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 RCV001200015 SCV001370874 likely pathogenic Phenylketonuria 2020-05-09 reviewed by expert panel curation The c.1129T>G (p.Tyr377Asp) variant in PAH has been reported in 1 Armenian individual with classic PKU (BH4 deficiency ruled out) (PP4_Moderate; PMID: 21890392). This variant is absent in population databases (PM2). This variant was detected in trans with c.1066-11G>A (Pathogenic in ClinVar) (PM3, PMID: 21890392). This variant is prediction to be deleterious by SIFT, PolyPhen, and MutationTaster, and REVEL = 0.932 (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4_Moderate.

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