Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051242 | SCV001215387 | uncertain significance | Proline dehydrogenase deficiency | 2022-07-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 847648). This variant has not been reported in the literature in individuals affected with PRODH-related conditions. This variant is present in population databases (rs372618210, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 468 of the PRODH protein (p.Glu468Lys). |
Fulgent Genetics, |
RCV002489619 | SCV002786545 | uncertain significance | Proline dehydrogenase deficiency; Schizophrenia 4 | 2022-02-03 | criteria provided, single submitter | clinical testing |