Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269317 | SCV001448668 | uncertain significance | Phenylketonuria | 2020-07-25 | reviewed by expert panel | curation | The NM_000277.3:c.949T>C (p.Tyr317His) variant is a missense variant in exon 9/13 of PAH. The variant does not appear to have been reported in the published literature (as of 07/02/2020). The variant is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). The variant is predicted damaging by multiple in-silico missense predictors, including REVEL (REVEL score 0.983), but tolerated by SIFT, such that PP3 is not met. Classification: VUS – insufficient evidence Supporting Criteria: PM2 |