Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041499 | SCV001205120 | likely pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-03-07 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 27086870). This variant has not been reported in the literature in individuals with SYNE1-related conditions. This variant is present in population databases (rs779302145, ExAC 0.001%). This sequence change affects a donor splice site in intron 45 of the SYNE1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |