ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.452-9C>A

dbSNP: rs1379006499
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660208 SCV000782208 likely pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001861716 SCV002260190 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 547740). This variant has been observed in individual(s) with Waardenburg syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the PAX3 gene. It does not directly change the encoded amino acid sequence of the PAX3 protein.
GeneDx RCV001861716 SCV003927694 uncertain significance not provided 2022-11-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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.