Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV005502904 | SCV006180814 | uncertain significance | Inborn genetic diseases | 2025-05-29 | criteria provided, single submitter | clinical testing | The c.4130T>C (p.I1377T) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a T to C substitution at nucleotide position 4130, causing the isoleucine (I) at amino acid position 1377 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000802753 | SCV000942596 | uncertain significance | Achondrogenesis, type IA | 2018-11-15 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TRIP11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces Ile with Thr at codon 1377 of the TRIP11 protein (p.Ile1377Thr). The Ile residue is weakly conserved and there is a moderate physicochemical difference between Ile and Thr. |