Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 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. |
| Labcorp Genetics |
RCV002542333 | SCV003290642 | uncertain significance | Achondrogenesis, type IA | 2022-08-22 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1330477). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs542557164, gnomAD 0.2%). 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). |