ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)

gnomAD frequency: 0.00001  dbSNP: rs28933082
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000016000 SCV001950086 likely pathogenic Synpolydactyly type 1 2021-07-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450643 SCV004183505 pathogenic Brachydactyly type E1 2023-10-07 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000016000 SCV004806003 pathogenic Synpolydactyly type 1 2024-03-25 criteria provided, single submitter clinical testing
GeneDx RCV005054139 SCV005687911 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: p.(R306W) resulted in altered binding specificity (PMID: 27013732); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as R31W; This variant is associated with the following publications: (PMID: 12414828, 27013732)
OMIM RCV000016000 SCV000036267 pathogenic Synpolydactyly type 1 2002-11-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.