ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.647_650dup (p.Lys218fs)

dbSNP: rs1567701164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003723036 SCV004516721 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys218Profs*22) in the HOXB13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the HOXB13 protein. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005014900 SCV005644227 uncertain significance Prostate cancer, hereditary, 9 2024-03-11 criteria provided, single submitter clinical testing

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