Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796128 | SCV000935625 | pathogenic | Phenylketonuria | 2018-08-14 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 6 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 deletion of exon 6 has been reported in individuals affected with phenylketonuria or hyperphenylalaninemia (PMID: 17221866, 19946181, 22841515, 12655547, Invitae). Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). For these reasons, this variant has been classified as Pathogenic. |