ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)

gnomAD frequency: 0.00001  dbSNP: rs539819851
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668686 SCV000793328 likely pathogenic Nemaline myopathy 2 2017-08-10 criteria provided, single submitter clinical testing
Invitae RCV000668686 SCV001381679 pathogenic Nemaline myopathy 2 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg6289*) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 553276). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233799 SCV003932181 pathogenic NEB-related disorder 2023-03-07 criteria provided, single submitter clinical testing PVS1, PS3_Moderate, PM2
Baylor Genetics RCV003472105 SCV004200126 likely pathogenic Arthrogryposis multiplex congenita 6 2023-09-11 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.