ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) (rs763016003)

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 RCV000705932 SCV000834954 uncertain significance Adams-Oliver syndrome 5 2018-07-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NOTCH1 gene (p.Pro2514Argfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the NOTCH1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NOTCH1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.
Blueprint Genetics RCV000788171 SCV000927200 uncertain significance not provided 2017-03-08 criteria provided, single submitter 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.