Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260501 | SCV002540163 | pathogenic | Phenylketonuria | 2022-01-22 | reviewed by expert panel | curation | The frameshift variant c.456_463dup generates a stop codon in exon 6 of 13 and is predicted to undergo NMD. The variant is absent from population databases, including gnomAD. It has been reported in at least one compound heterozygous patient with classical PKU (PMID: 24401910), in trans with pathogenic variant c.611A>G (ClinVar 590). In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3_supporting, PP4. |