ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)

gnomAD frequency: 0.00002  dbSNP: rs773778552
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995089 SCV001149089 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253042 SCV001428560 uncertain significance Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV000995089 SCV002207843 uncertain significance not provided 2021-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. 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 COL4A1 protein function. ClinVar contains an entry for this variant (Variation ID: 807045). This variant is present in population databases (rs773778552, ExAC 0.001%). This sequence change replaces aspartic acid with asparagine at codon 499 of the COL4A1 protein (p.Asp499Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine.
Fulgent Genetics, Fulgent Genetics RCV002497297 SCV002784485 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2022-04-17 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.