ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)

dbSNP: rs1369565068
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199206 SCV001370228 likely pathogenic X-linked Alport syndrome 2019-03-15 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP4.
Ambry Genetics RCV003163503 SCV003905191 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2116A>G (p.I706V) alteration is located in exon 27 (coding exon 27) of the COL4A5 gene. This alteration results from a A to G substitution at nucleotide position 2116, causing the isoleucine (I) at amino acid position 706 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.