Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198478 | SCV000252409 | likely pathogenic | not provided | 2014-01-29 | criteria provided, single submitter | clinical testing | p.Val180Phe (GTT>TTT): c.538 G>T in exon 5 of the TRMU gene (NM_018006.4). The V180F missense change that is likely pathogenic 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 V180F variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. This substitution occurs at a position in the TRMU protein where amino acids with similar properties as Valine are conserved. Multiple in-silico analysis programs predict that V180F is damaging to the TRMU protein. Therefore, V180F is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s). |