Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854514 | SCV002246013 | pathogenic | Phenylketonuria | 2021-11-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 226 of the PAH protein (p.Gln226His). This missense change has been observed in individual(s) with phenylketonuria (PMID: 11678552, 22513348, 32668217). For these reasons, this variant has been classified as Pathogenic. 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: 102783). |
De |
RCV000089034 | SCV000119639 | not provided | not provided | no assertion provided | not provided |