Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269072 | SCV001448296 | uncertain significance | Phenylketonuria | 2020-10-15 | reviewed by expert panel | curation | The c.442-14C>T PAH variant has been reported in 1 Han Chinese patient with PAH deficiency (PMID: 28982351) detected with the pathogenic PAH variant p.Arg111Ter. A defect in BH4 metabolism was excluded by urinary pterin analysis only. This variant has a MAF of 0.0003510 in the gnomAD East Asian population. It is intronic in a highly conserved nucleotide and is predicted to be benign by splicing prediction algorithms. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM3, PP4. |
Fulgent Genetics, |
RCV001269072 | SCV002780878 | uncertain significance | Phenylketonuria | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001269072 | SCV003505749 | likely benign | Phenylketonuria | 2024-06-03 | criteria provided, single submitter | clinical testing |