Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198688 | SCV000252412 | uncertain significance | not provided | 2014-07-31 | criteria provided, single submitter | clinical testing | p.Ala314Val (GCG>GTG): c.941 C>T in exon 9 of the TRMU gene (NM_018006.4). The A314V variant of unknown significance identified in the TRMU gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A314V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. However, 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 mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Natera, |
RCV001833155 | SCV002076161 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2021-06-22 | no assertion criteria provided | clinical testing |