ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)

dbSNP: rs1569316085
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680271 SCV000747093 pathogenic Cornelia de Lange syndrome 5 2018-03-08 criteria provided, single submitter clinical testing
DASA RCV001813791 SCV002061295 pathogenic Cornelia de Lange syndrome 1 2022-01-05 criteria provided, single submitter clinical testing The c.937C>T;p.(Arg313*) variant creates a premature translational stop signal in the HDAC8 gene. It is expected to result in an absent or disrupted protein product -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 523222; PMID: 30158690) - PS4. This variant is not present in population databases (rs1569316085, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.

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.