Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039022 | SCV001202528 | uncertain significance | Congenital myasthenic syndrome 8 | 2021-07-20 | 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 AGRN-related conditions. This variant is present in population databases (rs138212489, ExAC 0.006%). This sequence change affects codon 902 of the AGRN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AGRN protein. |