Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001219113 | SCV001391034 | uncertain significance | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 | 2020-02-17 | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This variant has not been reported in the literature in individuals with RAPSN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 304 of the RAPSN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAPSN protein. This variant also falls at the last nucleotide of exon 5 of the RAPSN coding sequence, which is part of the consensus splice site for this exon. |