Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200577 | SCV000252413 | uncertain significance | not provided | 2021-09-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Invitae | RCV000200577 | SCV002155999 | uncertain significance | not provided | 2022-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 369 of the TRMU protein (p.Ala369Val). This variant is present in population databases (rs111608902, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. ClinVar contains an entry for this variant (Variation ID: 215290). 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. |
Ambry Genetics | RCV003165458 | SCV003874259 | uncertain significance | Inborn genetic diseases | 2023-03-06 | criteria provided, single submitter | clinical testing | The c.1106C>T (p.A369V) alteration is located in exon 11 (coding exon 11) of the TRMU gene. This alteration results from a C to T substitution at nucleotide position 1106, causing the alanine (A) at amino acid position 369 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001833156 | SCV002076164 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2019-11-11 | no assertion criteria provided | clinical testing |