Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000664540 | SCV001250524 | uncertain significance | Phenylketonuria | 2019-11-10 | reviewed by expert panel | curation | The c.379G>A (p.Glu127Lys) variant in PAH has been reported in a patient with PAH deficiency (BH4 deficiency excluded) (PP4_Moderate; PMID: 26503515) This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2 HVAR, MutationTaster, and REVEL=0.781. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3. |
Counsyl | RCV000664540 | SCV000788519 | uncertain significance | Phenylketonuria | 2017-01-11 | criteria provided, single submitter | clinical testing |