Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389168 | SCV001590435 | pathogenic | Phenylketonuria | 2020-03-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). This variant has not been reported in the literature in individuals with PAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 102739). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly188Alafs*7) in the PAH gene. It is expected to result in an absent or disrupted protein product. |
De |
RCV000088988 | SCV000119592 | not provided | not provided | no assertion provided | not provided |