ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)

dbSNP: rs745382789
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381358 SCV001579721 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg52*) in the CABP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CABP4 are known to be pathogenic (PMID: 25307992). This variant is present in population databases (rs745382789, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 25307992). ClinVar contains an entry for this variant (Variation ID: 1069487). For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV001542588 SCV001760278 pathogenic Cone-rod synaptic disorder, congenital nonprogressive 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.