Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018648 | SCV001179909 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-08 | criteria provided, single submitter | clinical testing | The p.D10E variant (also known as c.30T>G), located in coding exon 1 of the HOXB13 gene, results from a T to G substitution at nucleotide position 30. The aspartic acid at codon 10 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001362359 | SCV001558370 | uncertain significance | not provided | 2022-02-18 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 10 of the HOXB13 protein (p.Asp10Glu). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 690708). 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). |
| Laboratory of Virology, |
RCV000856011 | SCV000994002 | uncertain significance | Prostate cancer, hereditary, 1 | no assertion criteria provided | clinical testing |