ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.599del (p.Ser200fs)

dbSNP: rs886043860
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
Eurofins Ntd Llc (ga) RCV000301397 SCV000342369 pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765655 SCV004629434 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-01-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 288297). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser200Ilefs*2) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821).
Mayo Clinic Laboratories, Mayo Clinic RCV000301397 SCV005414134 likely pathogenic not provided 2023-10-09 criteria provided, single submitter clinical testing PM2_moderate, PVS1

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.