Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001578704 | SCV001805986 | uncertain significance | Pyruvate dehydrogenase E1-beta deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001578704 | SCV003523118 | uncertain significance | Pyruvate dehydrogenase E1-beta deficiency | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 279 of the PDHB protein (p.Ile279Thr). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 991899). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
Natera, |
RCV001280185 | SCV001467345 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2020-08-13 | no assertion criteria provided | clinical testing |