Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632884 | SCV000754089 | pathogenic | Phenylketonuria | 2017-08-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing part of exon 6 of the PAH gene, including the exon 6-intron 6 boundary (c.553_706+646delinsTACTTACCTAT). 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 the literature in individuals affected with phenylketonuria and hyperphenylalaninemia (PMID: 24304607). Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). For these reasons, this variant has been classified as Pathogenic. |