ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)

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
Pediatrics, Sichuan Provincial Hospital For Women And Children RCV003153287 SCV003840207 likely pathogenic Autosomal dominant non-syndromic intellectual disability criteria provided, single submitter research A male, 3 years old, full development retardation (GDD), moderate intellectual impairment (ID), severe language restriction, behavioral abnormalities, sleep disorders, high pain threshold, 2 years and 9 months since the repeated seizures, EEG and head MRI tests were not abnormal, gene sequencing suggests there is a new heterozygous mutation on the DEAF1 gene: C. 782G>C (p.Arrg261pro), VSVS was confirmed

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.