ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.585G>A (p.Trp195Ter)

dbSNP: rs867793282
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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 RCV001024611 SCV001186653 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-06 criteria provided, single submitter clinical testing The p.W195* variant (also known as c.585G>A), located in coding exon 1 of the HOXB13 gene, results from a G to A substitution at nucleotide position 585. This changes the amino acid from a tryptophan to a stop codon within coding exon 1. This alteration occurs at the 3' terminus of theHOXB13 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 32% of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this alteration remains unclear.
Laboratory for Genotyping Development, RIKEN RCV003160182 SCV002758216 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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