Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269064 | SCV001448286 | uncertain significance | Phenylketonuria | 2020-10-16 | reviewed by expert panel | curation | This c.285C>T (p.Ile95Ile) variant in PAH was reported in one patient with classic PKU, detected with pathogenic variant p.Y204C (phase unknown). BH4 cofactor deficiency was ruled out through unknown methods (PMID: 30459323). This variant is absent from controls in population databases. Computational prediction algorithms predict that this synonymous variant does not impact the splice consensus sequence nor does it create a new splice site. In summary, this variant meets criteria to be classified as Uncertain Significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_supporting, PP4, and BP7. |
Labcorp Genetics |
RCV001269064 | SCV001621861 | likely benign | Phenylketonuria | 2023-12-17 | criteria provided, single submitter | clinical testing |