ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)

dbSNP: rs1057517051
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410084 SCV000486671 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2016-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410084 SCV001584019 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-03-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr184*) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 25862795). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371156).
Baylor Genetics RCV000410084 SCV005056703 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-02-10 criteria provided, single submitter clinical testing

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.