ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23848-1G>C (rs797045098)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190608 SCV000245642 likely pathogenic Nemaline myopathy 2 2014-10-07 criteria provided, single submitter clinical testing The c.23848-1G>C variant in NEB has not been previously reported in individuals with nemaline myopathy. It was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Complete loss of NEB function is an established disease mechanism in nemaline myopathy. In summary, although additional studies are required to fully establish its clinical significance, the c.23848-1 G>C variant is likely pathogenic.

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.