Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000350776 | SCV000343406 | uncertain significance | not provided | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000647645 | SCV000769443 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2017-12-19 | 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 SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 289112). This variant is present in population databases (rs762887399, ExAC 0.009%). This sequence change affects codon 1351 of the SYNE1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SYNE1 protein. |