Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001017876 | SCV001179039 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-26 | criteria provided, single submitter | clinical testing | The p.T283A variant (also known as c.847A>G), located in coding exon 2 of the HOXB13 gene, results from an A to G substitution at nucleotide position 847. The threonine at codon 283 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001062613 | SCV001227427 | uncertain significance | not provided | 2022-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 283 of the HOXB13 protein (p.Thr283Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. ClinVar contains an entry for this variant (Variation ID: 822484). 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. 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. |
| Fulgent Genetics, |
RCV005021328 | SCV005644224 | uncertain significance | Prostate cancer, hereditary, 9 | 2024-01-17 | criteria provided, single submitter | clinical testing |