Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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. |