Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV005301248 | SCV005961166 | uncertain significance | Inborn genetic diseases | 2025-03-05 | criteria provided, single submitter | clinical testing | The c.5285A>C (p.D1762A) alteration is located in exon 17 (coding exon 17) of the TRIP11 gene. This alteration results from a A to C substitution at nucleotide position 5285, causing the aspartic acid (D) at amino acid position 1762 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003091720 | SCV003480770 | uncertain significance | Achondrogenesis, type IA | 2022-06-13 | 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 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"). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs370711384, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1762 of the TRIP11 protein (p.Asp1762Ala). |