ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001375492 SCV001439293 likely pathogenic Microcephaly criteria provided, single submitter research Analysis of the exome sequencing data showed a novel heterozygous sequence variant in COL4A1 gene. This variant is predicted as Disease Causing by MutationTaster. The variant is not found in ExAC and 1000G databases. Sanger sequencing confirmed the variation in the proband. Segregation analysis in parents confirms that variant is inherited in de novo pattern.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001261992 SCV001439353 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-05-20 criteria provided, single submitter research ACMG codes:PS2; PM2; PP3

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.