ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1144G>A (p.Glu382Lys) (rs776730737)

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 RCV001390624 SCV001592415 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 382 of the IGHMBP2 protein (p.Glu382Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with spinal muscular atrophy with respiratory distress (PMID: 14681881, 26922252, 21353777). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 637456). This variant has been reported to affect IGHMBP2 protein function (PMID: 19158098). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789645 SCV000929017 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.