ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)

dbSNP: rs1594427410
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825531 SCV000966846 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2018-10-26 criteria provided, single submitter clinical testing The p.Ser244ProfsX41 variant in IGHMBP2 has not been previously reported in indi viduals with Spinal muscular atrophy with respiratory distress type 1 (SMARD1) a nd was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at positi on 244 and leads to a premature termination codon 41 amino acids downstream. Thi s alteration is then predicted to lead to a truncated or absent protein. Biallel ic loss of function of the IGHMBP2 gene is an established disease mechanism in S MARD1. In summary, although additional studies are required to fully establish i ts clinical significance, the p.Ser244ProfsX41 variant is likely pathogenic. ACM G/AMP Criteria applied: PVS1, PM2.

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.