Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV000235547 | SCV000256886 | pathogenic | Propionic acidemia | criteria provided, single submitter | research | ||
Invitae | RCV000235547 | SCV003525670 | pathogenic | Propionic acidemia | 2023-09-08 | criteria provided, single submitter | clinical testing | 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 PCCB protein function. ClinVar contains an entry for this variant (Variation ID: 217891). This missense change has been observed in individuals with propionic acidemia (PMID: 22156789, 27227689, 27825584). This variant is present in population databases (rs777027944, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 404 of the PCCB protein (p.Glu404Lys). |
Baylor Genetics | RCV000235547 | SCV004205212 | pathogenic | Propionic acidemia | 2023-07-04 | criteria provided, single submitter | clinical testing |