ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18891+1G>A (rs1443738549)

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
Counsyl RCV000667258 SCV000791680 likely pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731470 SCV000859291 likely pathogenic not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000667258 SCV001574488 likely pathogenic Nemaline myopathy 2 2020-07-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 120 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of congenital myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 552061). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been 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.