ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) (rs1556165162)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab,Policlinico S. Orsola.Malpighi RCV000656365 SCV000747096 pathogenic Cornelia de Lange syndrome 5 2018-05-03 criteria provided, single submitter clinical testing This is a predicted null variant (frameshift) in a gene (HDAC8) where loss of function is a known cause of disease. It is absent from large population databases. No other family members were affected and the variant is likely de novo in this female patient (absent in her father, sister and maternal grandomother; her mother died due to accidental causes). Mutations in HDAC8 are a known cause of Cornelia de Lange syndrome type 5 and Intellectual Disability; clinical features of this patient are consistent with those previously described in patients with HDAC8 mutations.

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.