Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487126 | SCV000571469 | uncertain significance | not specified | 2016-08-29 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the DLD gene. The I70T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I70T 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. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Natera, |
RCV001834566 | SCV002080041 | uncertain significance | Pyruvate dehydrogenase E3 deficiency | 2019-10-28 | no assertion criteria provided | clinical testing |