ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)

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
Invitae RCV001204582 SCV001375795 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-06-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IGHMBP2 gene (p.Gln847Argfs*131). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acids of the IGHMBP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. This variant disrupts the C-terminus of the IGHMBP2 protein. Other variant(s) that disrupt this region (p.Arg971Glufs*4, p.Lys868Profs*109) have been determined to be pathogenic (PMID: 26298607, 23566544). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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.