Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000734199 | SCV000252411 | uncertain significance | not provided | 2014-05-19 | criteria provided, single submitter | clinical testing | p.Arg309Cys (CGC>TGC): c.925 C>T in exon 9 of the TRMU gene (NM_018006.4). The R309C varian 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 R309C 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 across species. 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 mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Eurofins Ntd Llc |
RCV000734199 | SCV000862323 | uncertain significance | not provided | 2018-07-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833154 | SCV002076160 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2020-02-18 | no assertion criteria provided | clinical testing |