Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001257309 | SCV003525334 | uncertain significance | Pyruvate dehydrogenase E1-beta deficiency | 2022-03-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 319 of the PDHB protein (p.Asp319Val). This variant is present in population databases (rs199983136, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of PDHB-related conditions (PMID: 18164639). ClinVar contains an entry for this variant (Variation ID: 978590). 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. |
Baylor Genetics | RCV001257309 | SCV004203248 | likely pathogenic | Pyruvate dehydrogenase E1-beta deficiency | 2023-08-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001257309 | SCV001433855 | pathogenic | Pyruvate dehydrogenase E1-beta deficiency | 2020-09-24 | no assertion criteria provided | literature only |