ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) (rs142093416)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490277 SCV000267266 uncertain significance Alport syndrome, autosomal recessive 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000490277 SCV000793173 uncertain significance Alport syndrome, autosomal recessive 2017-07-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140967 SCV001301276 uncertain significance Alport syndrome 2017-07-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001582719 SCV001811303 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing Observed in the heterozygous state in a individual with hearing loss in the published literature, however, information was limited (Miyagawa et al., 2013); Observed in a patient with thin basement nephropathy in the published literature; this variant was also noted in the same study to be observed in 143 controls in the Korean population (Baek et al., 2009); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; This variant is associated with the following publications: (PMID: 19675380, 23967202)

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.