Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000672139 | SCV001762314 | uncertain significance | Phenylketonuria | 2021-02-13 | reviewed by expert panel | curation | The c.969A>G (p.Thr323=) variant in PAH has been found in a patient with PAH deficiency in cis with pathogenic variant IVS2–13T→G (PMID: 10394930). This variant has an extremely low frequency in gnomAD (MAF=0.00001). Splicing predictions are conflicting (HSF/MaxENT: probably no impact; TRAP 0.831: probably damaging). A functional study shows no significant effect on protein activity as compared to wild type (Relative PAH activity 114 +/-18, PMID: 18590700). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BS3_supporting. |
Counsyl | RCV000672139 | SCV000797208 | uncertain significance | Phenylketonuria | 2018-01-16 | criteria provided, single submitter | clinical testing | |
De |
RCV000089183 | SCV000119798 | not provided | not provided | no assertion provided | not provided |