Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002390731 | SCV002671941 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-30 | criteria provided, single submitter | clinical testing | The c.751delG variant, located in coding exon 2 of the HOXB13 gene, results from a deletion of one nucleotide at position 751, causing a translational frameshift with a predicted alternate stop codon (p.A251Qfs*28). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of HOXB13 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Laboratory of Virology, |
RCV000856484 | SCV000994475 | uncertain significance | Prostate cancer, hereditary, 1 | no assertion criteria provided | clinical testing |