ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.937G>A (p.Glu313Lys)

dbSNP: rs2142379352
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 RCV001951175 SCV002238648 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 313 of the CLCN7 protein (p.Glu313Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant has been observed in individual(s) with clinical features of autosomal dominant osteopetrosis (PMID: 21947783, 30942407, Invitae). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLCN7 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001951175 SCV005061364 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 37334733, 36051116, 35370969, 30942407, 21947783)

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.