ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10872+1G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267672 SCV001445905 pathogenic Nemaline myopathy 2 2019-05-15 criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 73 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. A different variant at the same position (c.10872+1G>T) has been reported in the homozygous state in a patient with fetal akinesia (PMID: 28336317). Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. Based on the available evidence, the c.10872+1G>A variant is classified as a 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.