ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3255+1G>A (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 RCV000536181 SCV000791647 pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000519006 SCV000617717 pathogenic not provided 2016-01-11 criteria provided, single submitter clinical testing The c.3255+1 G>A variant in the NEB gene has been reported in association with nemaline myopathy (Lehtokari et al., 2006; Lehtokari et al., 2014). This splice site variant in the destroys the canonical splice donor site in intron 32. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation
Invitae RCV000536181 SCV000640776 pathogenic Nemaline myopathy 2 2018-01-09 criteria provided, single submitter clinical testing This sequence change affects 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 0.02%). This variant has been reported in individuals affected with nemaline myopathy (PMID: 25205138, 16917880). This variant is also known as g.53437G>A in the literature. 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.