ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.216dup (p.Thr73fs)

dbSNP: rs1597934769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014631 SCV001175363 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing The c.216dupG variant, located in coding exon 1 of the HOXB13 gene, results from a duplication of G at nucleotide position 216, causing a translational frameshift with a predicted alternate stop codon (p.T73Dfs*54). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function via haploinsufficiency in 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, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca RCV000855936 SCV000993927 uncertain significance Prostate cancer, hereditary, 1 no assertion criteria provided clinical testing

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