ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.835A>G (p.Ser279Gly)

gnomAD frequency: 0.00002  dbSNP: rs565410997
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811885 SCV000952175 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 279 of the SGCB protein (p.Ser279Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs565410997, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000811885 SCV002082973 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-07-27 no assertion criteria provided 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.