ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.594+1G>A

dbSNP: rs1553690565
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000505603 SCV000793901 likely pathogenic Autosomal recessive Alport syndrome 2017-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV001535988 SCV001752659 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2021-06-30 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000505603 SCV002098117 likely pathogenic Autosomal recessive Alport syndrome 2022-02-21 criteria provided, single submitter clinical testing
Invitae RCV001857239 SCV002205053 pathogenic not provided 2021-08-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the COL4A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal recessive Alport syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438704). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505603 SCV000599862 pathogenic Autosomal recessive Alport syndrome 2017-04-20 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.