Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002025316 | SCV002272904 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 381 of the TRMU protein (p.Gly381Arg). This variant is present in population databases (rs766403441, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TRMU protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Institute of Human Genetics, |
RCV004763285 | SCV005368121 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2024-04-22 | criteria provided, single submitter | clinical testing | Criteria applied: PM5,PM1_SUP,PM2_SUP |