ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) (rs1458048713)

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
Counsyl RCV000666431 SCV000790722 pathogenic Nemaline myopathy 2 2017-04-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588345 SCV000697814 likely pathogenic Nemaline myopathy 2017-01-26 criteria provided, single submitter clinical testing Variant summary: The NEB c.24218C>A (p.Ser8073X) variant results in a premature termination codon, predicted to cause a truncated or absent NEB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.24559C>T, p.Arg8187X). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 20610 control chromosomes but has been reported in at least two affected individuals in the literature who had mild phenotypes. Taken together, this variant is classified as 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.