ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) (rs185142838)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622864 SCV000742719 pathogenic Inborn genetic diseases 2017-07-03 criteria provided, single submitter clinical testing
Counsyl RCV000671085 SCV000796027 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733375 SCV000861440 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784896 SCV000923433 pathogenic Cockayne syndrome B 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000733375 SCV001219828 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1288*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs185142838, ExAC 0.09%). This variant has been observed to segregate with clinical features of Cockayne and Cerebrooculofacioskeletal syndrome in a family and has been observed in individuals with this condition (PMID: 20456449, 29572252, 19894250). ClinVar contains an entry for this variant (Variation ID: 31578). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024284 SCV000045575 pathogenic Cerebrooculofacioskeletal syndrome 1 2010-12-01 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000784896 SCV001432393 pathogenic Cockayne syndrome B no assertion criteria provided clinical testing

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.