Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044423 | SCV001208221 | uncertain significance | Bethlem myopathy 1 | 2020-12-21 | 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 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 COL6A2-related conditions. This variant is present in population databases (rs778401356, ExAC 0.009%). This sequence change affects codon 605 of the COL6A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL6A2 protein. |