ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) (rs781185019)

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
GeneDx RCV000522758 SCV000617716 pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing The Y1858X variant in the NEB gene has been reported previously in the compound heterozygous state in an individual who presented with severe neonatal hypotonia, respiratory distress, arthrogryposis, hip hyperlaxity, club feet, dysmorphic (Bohm et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y1858X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Y1858X as a pathogenic variant.
Invitae RCV000695627 SCV000824138 pathogenic Nemaline myopathy 2 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1858*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781185019, ExAC 0.003%). This variant has been reported in combination with another NEB variant in an individual affected with NEB-related conditions (PMID: 23826317). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as 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.