ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs) (rs754422011)

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 RCV001227491 SCV001399852 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-08-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IGHMBP2 gene (p.Lys868Profs*109). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 126 amino acids of the IGHMBP2 protein. This variant is present in population databases (rs754422011, ExAC 0.003%). This variant has been observed in an individual affected with spinal muscular atrophy (PMID: 23566544). This variant is also known as p.Lys868Profs*110 in the literature. This variant disrupts the C-terminus of the IGHMBP2 protein. Other variant(s) that disrupt this region (p.Arg971Glufs*4) have been determined to be pathogenic (PMID: 25439726, 25568292, Invitae). 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.
Inherited Neuropathy Consortium RCV000789354 SCV000928708 uncertain significance Autosomal dominant distal hereditary motor neuropathy 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.