Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801361 | SCV000941135 | pathogenic | Phenylketonuria | 2022-02-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the PAH gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). A similar copy number variant has been observed in individuals with hyperphenylalaninemia (PMID: 22333022, 26666653). For these reasons, this variant has been classified as Pathogenic. |