Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000637174 | SCV000758622 | uncertain significance | Epileptic encephalopathy | 2020-02-22 | 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 FASN-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.128_130delGGCinsATT, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 2 amino acids of the FASN protein (p.Gly43_Leu44delinsAspPhe). This variant also falls at the first nucleotide of exon 3 of the FASN coding sequence. |