ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp)

dbSNP: rs755233004
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251503 SCV001427124 likely pathogenic Benign familial hematuria 2018-08-14 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_000092.4(COL4A4):c.1970G>A, has been identified in exon 25 of 48 of the COL4A4 gene. The variant is predicted to result in a moderate amino acid change from glycine to aspartate at position 657 of the protein, NP_000083.3(COL4A4):p.(Gly657Asp). The glycine residue at this position has high conservation (100 vertebrates, UCSC), and is located within a Gly-X-Y repeat in the collagen triple helical region. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.

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.