Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000714682 | SCV000845403 | uncertain significance | Pyruvate carboxylase deficiency | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000714682 | SCV003458543 | uncertain significance | Pyruvate carboxylase deficiency | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 611 of the PC protein (p.Thr611Met). This variant is present in population databases (rs757071897, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PC-related conditions. ClinVar contains an entry for this variant (Variation ID: 587499). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |