Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442458 | SCV000525863 | uncertain significance | not provided | 2017-01-12 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TMPO gene. The K290E variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server; Exome Aggregation Consortium). The K290E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position that is not conserved, and glutamic acid (E) is the native amino acid at this position in at least one species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. |
Labcorp Genetics |
RCV001396124 | SCV001597846 | likely benign | Loeys-Dietz syndrome 2 | 2023-12-11 | criteria provided, single submitter | clinical testing |