ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)

gnomAD frequency: 0.00001  dbSNP: rs749299357
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
Counsyl RCV000666144 SCV000790388 likely pathogenic Autosomal recessive Alport syndrome 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV001855453 SCV002294604 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1103 of the COL4A4 protein (p.Gly1103Arg). This variant is present in population databases (rs749299357, gnomAD 0.004%). This missense change has been observed in individuals with autosomal recessive Alport syndrome (PMID: 24633401, 26628290, 35369551). ClinVar contains an entry for this variant (Variation ID: 551160). 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 COL4A4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001855453 SCV003842531 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A4 gene; This variant is associated with the following publications: (PMID: 26628290, 35369551, 35419377, 24633401)

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.