Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632885 | SCV000754090 | pathogenic | Phenylketonuria | 2019-05-20 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the PAH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar variant has been reported in combination with another PAH variant in several individuals affected with phenylketonuria or hyperphenylalaninemia (PMID: 12655547, 22513348, 23942198). Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). For these reasons, this variant has been classified as Pathogenic. |