ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala)

dbSNP: rs1940998166
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
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814451 SCV001755371 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV002291761 SCV002584305 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing Observed in homozygous state in patients referred for genetic testing at GeneDx and in sisters with congenital myasthenic syndrome in published literature (Selcen et al., 2015) and not observed in homozygous state in controls; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26052878)

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.