ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del)

dbSNP: rs2114794775
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
3billion, Medical Genetics RCV001775248 SCV002011961 likely pathogenic Merosin deficient congenital muscular dystrophy 2021-10-02 criteria provided, single submitter clinical testing Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function (PM4). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed in trans with a pathogenic variant (NM_000426.3: c.2049_2050del) as compound heterozygous (3billion dataset, PM3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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.