ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5747T>C (p.Met1916Thr) (rs142540692)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479984 SCV000572978 uncertain significance not specified 2017-08-24 criteria provided, single submitter clinical testing The M1916T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M1916T variant is observed in 37/9786 (0.38%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with nemaline myopathy (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726779 SCV000702981 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing
Invitae RCV001087066 SCV001017474 likely benign Nemaline myopathy 2 2019-12-31 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.