ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)

gnomAD frequency: 0.00011  dbSNP: rs774702094
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000761202 SCV001245379 likely pathogenic Cone-rod dystrophy and hearing loss 2 2020-02-14 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Cone-rod dystrophy and hearing loss 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3, PVS1-Strong.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268229 SCV001447005 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268229 SCV001588996 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1336*) in the CEP250 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP250 are known to be pathogenic (PMID: 24780881, 29718797). This variant is present in population databases (rs774702094, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 30459346). ClinVar contains an entry for this variant (Variation ID: 620662).
OMIM RCV000761202 SCV000891118 pathogenic Cone-rod dystrophy and hearing loss 2 2019-03-14 no assertion criteria provided literature only

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.