ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu)

gnomAD frequency: 0.00001  dbSNP: rs971655417
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 RCV001056883 SCV001221348 uncertain significance Nemaline myopathy 2 2023-08-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 852303). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1708 of the NEB protein (p.Gly1708Glu).
Natera, Inc. RCV001056883 SCV002077687 uncertain significance Nemaline myopathy 2 2021-01-27 no assertion criteria provided 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.