ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003319597 SCV004023396 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2023-06-19 criteria provided, single submitter clinical testing The detected change is not reported in the general population (gnomAD) (as of June 19, 2023). It has not yet been described in the ClinVar database or in the literature. Bioinformatically, the change is classified as "likely disease-causing" (PolyPhen2, Mutation Taster, SIFT, CADDphred 28.5). The variant was not detected in the parental samples. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

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.