Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV005232712 | SCV005877796 | uncertain significance | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | The TRIP11 c.911C>T; p.Ser304Phe variant (rs779061616), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1408177). This variant is only observed on three alleles in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.105). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |
| Labcorp Genetics |
RCV001909837 | SCV002178618 | uncertain significance | Achondrogenesis, type IA | 2022-07-17 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 304 of the TRIP11 protein (p.Ser304Phe). This variant is present in population databases (rs779061616, gnomAD 0.02%). 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: 1408177). 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: "Possibly Damaging"; 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. |