ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) (rs762420854)

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
Illumina Clinical Services Laboratory,Illumina RCV000265626 SCV000428161 uncertain significance Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780198 SCV000917258 uncertain significance not specified 2018-02-05 criteria provided, single submitter clinical testing Variant summary: COL4A3 c.1367_1369delATC (p.Tyr456del) results in an in-frame deletion removing a Tyrosine located in the collagen triple helix repeat domain (InterPro). The variant of interest was observed with an allele frequency of 7.2e-06 in 277092 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in COL4A3 causing Alport Syndrome, autosomal recessive (7.2e-06 vs 0.002), allowing no conclusion about variant significance. To our knowledge, the variant, c.1367_1369delATC, has not been reported in affected individuals via publications, nor evaluated for functional implications. However, a clinical diagnostic laboratory, ClinVar submission (after 2014), classifies the variant as "uncertain significance." Based on the evidence outlined above, the variant was classified as uncertain significance.

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.