Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672236 | SCV000797326 | likely pathogenic | Phenylketonuria | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672236 | SCV001583012 | pathogenic | Phenylketonuria | 2021-01-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to have conflicting or insufficient data to determine the effect on PAH protein function (PMID: 17935162, 15557004). This variant has been observed in individual(s) with hyperphenylalaninemia (PMID: 15503242,9359039, 14681498, 14726806, 10484807). ClinVar contains an entry for this variant (Variation ID: 102568). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 407 of the PAH protein (p.Pro407Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |
De |
RCV000088802 | SCV000119391 | not provided | not provided | no assertion provided | not provided |