Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000993608 | SCV001146714 | uncertain significance | Phenylketonuria | 2019-08-25 | reviewed by expert panel | curation | The c.168+5G>T variant has been identified in at least 2 probands, with at least 1 classic PKU proband excluding BH4 deficiency (PMIDs: 30747360). This variant is absent from 1000G, ESP, and gnomAD databases. Computational analysis predicts an alteration of the WT donor site, most probably affecting splicing. In summary, this variant meets criteria to be classified as unknown significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_Moderate, PP3. |
De |
RCV000088849 | SCV000119444 | not provided | not provided | no assertion provided | not provided |