ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3255+1G>T (rs375628303)

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 RCV000667228 SCV000791648 pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000667228 SCV000893563 likely pathogenic Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000667228 SCV000956305 pathogenic Nemaline myopathy 2 2018-09-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs375628303, ExAC 0.002%). This variant has been observed in individuals affected with nemaline myopathy (PMID: 16917880). This variant is also known as g.53437G>T in the literature. Experimental studies have shown that this splice donor change results in aberrant splicing of the NEB primary transcript (PMID: 16917880). 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). 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.