ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) (rs1174809027)

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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678316 SCV000804375 uncertain significance Carpenter syndrome 2 2017-08-01 criteria provided, single submitter provider interpretation This variant was identified in a 3 year old male with global developmental delay, expressive language disorder, mild hypotonia, short stature, dolichocephaly, laterally arched eyebrows, epicanthal folds, bulbous nasal tip, bowed upper lip, small toes, sleep disorder, and a history of prematurity. The variant is absent from the gnomAD database, and computational models predict it to be deleterious. This variant has not been reported previously in a clinical setting, to our knowledge. A second VUS in MEGF8 (p.Pro2032Ser) was also identified in trans. Clinical correlation with Carpenter syndrome 2 was thought to be poor. Additionally, whole exome sequencing also identified a likely pathogenic variant that likely explains the patient's presentation and history.

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.