ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) (rs121912860)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666567 SCV000790877 likely pathogenic Alport syndrome, autosomal recessive 2017-04-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710841 SCV000841146 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing
Invitae RCV000710841 SCV001236856 pathogenic not provided 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 897 of the COL4A4 protein (p.Gly897Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 8787673, 26809805). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17406). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000018949 SCV001370024 likely pathogenic Benign familial hematuria 2018-12-10 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
OMIM RCV000018949 SCV000039236 pathogenic Benign familial hematuria 1996-09-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710841 SCV001928919 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000710841 SCV001956583 pathogenic not provided no assertion criteria provided 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.