Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002363197 | SCV002666156 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-08 | criteria provided, single submitter | clinical testing | The p.E230K variant (also known as c.688G>A), located in coding exon 2 of the HOXB13 gene, results from a G to A substitution at nucleotide position 688. The glutamic acid at codon 230 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003768622 | SCV004673844 | uncertain significance | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 230 of the HOXB13 protein (p.Glu230Lys). 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: 691148). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HOXB13 protein function. 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. |
Laboratory of Virology, |
RCV000856451 | SCV000994442 | uncertain significance | Prostate cancer, hereditary, 1 | no assertion criteria provided | clinical testing |