Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001858500 | SCV002248702 | uncertain significance | not provided | 2023-05-19 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 690958). This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 25 of the HOXB13 protein (p.Arg25Trp). |
| Ambry Genetics | RCV004629359 | SCV005122165 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-05 | criteria provided, single submitter | clinical testing | The p.R25W variant (also known as c.73C>T), located in coding exon 1 of the HOXB13 gene, results from a C to T substitution at nucleotide position 73. The arginine at codon 25 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Laboratory of Virology, |
RCV000856261 | SCV000994252 | uncertain significance | Prostate cancer, hereditary, 1 | no assertion criteria provided | clinical testing |