ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.-42del

gnomAD frequency: 0.00001  dbSNP: rs749853265
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 RCV001225979 SCV001398273 pathogenic Myasthenic syndrome, congenital, 22 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln76Serfs*21) in the PREPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PREPL are known to be pathogenic (PMID: 24610330, 28726805, 29913539). This variant is present in population databases (rs749853265, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PREPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 953650). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252333 SCV002523134 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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.