Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002542333 | SCV003290642 | uncertain significance | Achondrogenesis, type IA | 2025-09-08 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1690 of the TRIP11 protein (p.Met1690Val). This variant is present in population databases (rs542557164, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1330477). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TRIP11 protein function with a negative predictive value of 80%. 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. |
| ARUP Laboratories, |
RCV001810811 | SCV002049192 | uncertain significance | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing | The TRIP11 c.5068A>G, p.Met1690Val variant (rs542557164), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.02% (47/282,116 alleles) in the Genome Aggregation Database. The methionine at codon 1690 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.147). Based on the available information, the clinical significance of this variant is uncertain. |