ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) (rs1479493690)

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
Invitae RCV001221389 SCV001393430 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln55*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another IGHMBP2 variant in an individual affected with spinal muscular atrophy with respiratory distress (PMID: 17431882). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790281 SCV000929685 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only

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.