Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638202 | SCV000759688 | uncertain significance | Severe myoclonic epilepsy in infancy | 2020-03-06 | 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 SNX27-related disease. This variant is present in population databases (rs774725804, ExAC 0.001%). This sequence change affects codon 152 of the SNX27 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SNX27 protein. |