ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.46dup (p.Leu16fs)

dbSNP: rs2153311780
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387008 SCV001587488 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-12-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073878). This variant is also known as c.46insC. This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 12730725, 14504330). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu16Profs*142) in the RAPSN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAPSN are known to be pathogenic (PMID: 17686188).
Baylor Genetics RCV003463017 SCV004206114 pathogenic Fetal akinesia deformation sequence 2 2023-11-02 criteria provided, single submitter clinical testing
OMIM RCV002280825 SCV000028723 pathogenic Congenital myasthenic syndrome 11 2003-01-01 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.