ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.404T>G (p.Leu135Trp)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003340697 SCV004047347 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E criteria provided, single submitter clinical testing The missense variant in c.404T>G in SGCB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu135Trp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Leu at position 135 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Leu135Trp in SGCB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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.