ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.-10_13del (p.Met1fs)

dbSNP: rs2109380910
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001893276 SCV002165707 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-05-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon ‚Äãhas been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 12566530, 15938573, 25135358, 25862795) The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects the initiator methionine of the SGCB mRNA. The next in-frame methionine is located at codon 22.

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.