ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn)

gnomAD frequency: 0.00005  dbSNP: rs376401228
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 RCV001912746 SCV002171080 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1538 of the COL4A4 protein (p.Asp1538Asn). This variant is present in population databases (rs376401228, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. 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 COL4A4 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.
Fulgent Genetics, Fulgent Genetics RCV002506987 SCV002812305 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2022-05-06 criteria provided, single submitter clinical testing
GeneDx RCV001912746 SCV003842626 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.