Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216842 | SCV001388655 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2021-05-31 | 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 COL12A1-related conditions. This variant is present in population databases (rs763294691, ExAC 0.002%). This sequence change affects codon 1729 of the COL12A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL12A1 protein. |
Gene |
RCV001751407 | SCV002005678 | uncertain significance | not provided | 2019-09-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |