ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)

gnomAD frequency: 0.00016  dbSNP: rs200269437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003133394 SCV000714582 uncertain significance not provided 2024-12-06 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000690819 SCV000818547 likely benign Nemaline myopathy 2 2025-01-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133394 SCV003812818 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000690819 SCV001454440 uncertain significance Nemaline myopathy 2 2019-12-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004737885 SCV005359492 uncertain significance NEB-related disorder 2024-03-31 no assertion criteria provided clinical testing The NEB c.24146T>C variant is predicted to result in the amino acid substitution p.Val8049Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.