Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001300069 | SCV001489193 | uncertain significance | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2020-05-21 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MCEE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the MCEE mRNA. The next in-frame methionine is located at codon 96. |