Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000809311 | SCV000949458 | uncertain significance | Pyruvate dehydrogenase E1-beta deficiency | 2018-07-02 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 4-10 of the PDHB gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with PDHB-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PDHB cause disease. 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. |