ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.944G>A (p.Arg315His)

dbSNP: rs1374813094
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
New York Genome Center RCV001291793 SCV001480412 uncertain significance Intellectual disability, X-linked 49 2020-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001863167 SCV002250535 uncertain significance not provided 2023-05-23 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. 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 not expected to disrupt CLCN4 protein function. ClinVar contains an entry for this variant (Variation ID: 996971). This variant has not been reported in the literature in individuals affected with CLCN4-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 315 of the CLCN4 protein (p.Arg315His).
Gene2Care/ Palmer Lab, University of New South Wales RCV001291793 SCV002525734 likely pathogenic Intellectual disability, X-linked 49 2022-05-27 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.