ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3373G>C (p.Glu1125Gln) (rs757784515)

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
PreventionGenetics,PreventionGenetics RCV000250131 SCV000307344 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001068932 SCV001234069 uncertain significance Nemaline myopathy 2 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1125 of the NEB protein (p.Glu1125Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs757784515, ExAC 0.002%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 257809). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). 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.

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.