ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.31dup (p.Cys11fs)

dbSNP: rs752910161
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 RCV001389583 SCV001590978 pathogenic not provided 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys11Leufs*50) in the CLRN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLRN1 are known to be pathogenic (PMID: 11524702, 24498627). This variant is present in population databases (rs752910161, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CLRN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075882). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469761 SCV004214408 likely pathogenic Retinitis pigmentosa 61 2024-02-26 criteria provided, single submitter 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.