Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553371 | SCV000649069 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 91 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. This variant is present in population databases (rs776747142, ExAC 0.006%). This variant has not been reported in the literature in individuals with SYNE1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |
Revvity Omics, |
RCV003139843 | SCV003818163 | uncertain significance | not provided | 2019-03-18 | criteria provided, single submitter | clinical testing |