Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218392 | SCV001390273 | uncertain significance | Epileptic encephalopathy | 2021-06-14 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs757084318, ExAC 0.01%). 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 FASN-related conditions. This sequence change affects codon 488 of the FASN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FASN protein. |