ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002958596 SCV003277217 uncertain significance Cataract 14 multiple types 2023-01-01 criteria provided, single submitter clinical testing 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 GJA3 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. This variant has not been reported in the literature in individuals affected with GJA3-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 302 of the GJA3 protein (p.Leu302Arg). This variant is present in population databases (rs758716786, gnomAD 0.05%).
PreventionGenetics, part of Exact Sciences RCV003409988 SCV004116002 uncertain significance GJA3-related disorder 2023-01-19 criteria provided, single submitter clinical testing The GJA3 c.905T>G variant is predicted to result in the amino acid substitution p.Leu302Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-20716523-A-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004068065 SCV004876954 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.905T>G (p.L302R) alteration is located in exon 2 (coding exon 1) of the GJA3 gene. This alteration results from a T to G substitution at nucleotide position 905, causing the leucine (L) at amino acid position 302 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.