Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553282 | SCV000642124 | uncertain significance | Ataxia-telangiectasia-like disorder | 2020-10-14 | criteria provided, single submitter | clinical testing | In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs372784831, ExAC 0.006%) but has not been reported in the literature in individuals with an MRE11-related disease. This sequence change falls in intron 15 of the MRE11 gene. It does not directly change the encoded amino acid sequence of the MRE11 protein. |