ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.741-4T>G

dbSNP: rs1829498906
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
Invitae RCV001053225 SCV001217475 uncertain significance not provided 2019-02-18 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ELP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 8 of the ELP1 gene. It does not directly change the encoded amino acid sequence of the ELP1 protein.
Natera, Inc. RCV001274636 SCV001458972 uncertain significance Familial dysautonomia 2020-09-16 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.