Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000106378 | SCV001146757 | pathogenic | Phenylketonuria | 2019-07-14 | reviewed by expert panel | curation | The c.931_932del frameshift variant has been identified in at least 1 proband with mild PKU, BH4 deficiency not excluded (PMID: 26666653). It has been detected in trans with the pathogenic variant R241C (PMID: 26666653). This variant is absent from 1000G, Exac, and gnomAD databases. c.931_932delCT generates a frameshift predicted to result in a premature stop codon 4 residues downstream in exon 9 and undergo NMD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3_Supporting, PM2, PP4. |
Genome- |
RCV000106378 | SCV001810553 | pathogenic | Phenylketonuria | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Inserm U 954, |
RCV000106378 | SCV000143878 | probable-pathogenic | Phenylketonuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |