Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727032 | SCV000293807 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | The T280M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports T280M was observed in 2/122 alleles from Americans of African ancestry in the Southwest USA. The T280M 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 that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is 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. |
Invitae | RCV001084696 | SCV000640249 | likely benign | Charcot-Marie-Tooth disease, dominant intermediate B | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000727032 | SCV000705055 | uncertain significance | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing |