Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001013339 | SCV001173916 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-11 | criteria provided, single submitter | clinical testing | The p.K61M variant (also known as c.182A>T), located in coding exon 1 of the HOXB13 gene, results from an A to T substitution at nucleotide position 182. The lysine at codon 61 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly 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 |
RCV001067009 | SCV001232037 | uncertain significance | not provided | 2024-07-23 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 61 of the HOXB13 protein (p.Lys61Met). This variant is present in population databases (rs568967699, gnomAD 0.01%). 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: 820155). 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. 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. |
| Department of Pathology and Laboratory Medicine, |
RCV005394626 | SCV006054273 | uncertain significance | Prostate cancer, hereditary, 9 | 2022-10-03 | criteria provided, single submitter | clinical testing |