Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001880235 | SCV002175361 | uncertain significance | Pyruvate dehydrogenase E1-beta deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change affects codon 9 of the PDHB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PDHB protein. This variant is present in population databases (rs747302644, ExAC 0.01%). 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: 989800). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, |
RCV001277697 | SCV001464663 | uncertain significance | Pyruvate dehydrogenase complex deficiency | 2020-08-14 | no assertion criteria provided | clinical testing |