Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514542 | SCV003441003 | pathogenic | Phenylketonuria | 2022-07-10 | criteria provided, single submitter | clinical testing | This missense change has been observed in individuals with classical phenylketonuria (PMID: 32668217). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 362 of the PAH protein (p.Pro362Thr). This variant is also known as p.P362T. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PAH function (PMID: 18247293). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PAH protein function. ClinVar contains an entry for this variant (Variation ID: 102515). |
Baylor Genetics | RCV002514542 | SCV004209707 | pathogenic | Phenylketonuria | 2023-01-29 | criteria provided, single submitter | clinical testing | |
De |
RCV000088748 | SCV000119332 | not provided | not provided | no assertion provided | not provided |