Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV006392269 | SCV007244863 | uncertain significance | Inborn genetic diseases | 2025-10-06 | criteria provided, single submitter | clinical testing | The c.1039A>G (p.M347V) alteration is located in exon 7 (coding exon 7) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 1039, causing the methionine (M) at amino acid position 347 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001931178 | SCV002198366 | uncertain significance | Achondrogenesis, type IA | 2022-02-08 | 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 347 of the TRIP11 protein (p.Met347Val). This variant is present in population databases (rs758182094, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. |