ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) (rs199777870)

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
Ambry Genetics RCV000620458 SCV000739504 uncertain significance Cardiovascular phenotype 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768032 SCV000898859 uncertain significance Aortic valve disorder; Adams-Oliver syndrome 5 2018-04-23 criteria provided, single submitter clinical testing NOTCH1 NM_017617.5 exon 34 p.Pro2438Leu (c.7313C>T): This variant has not been reported in the literature but is present in 2/34172 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs199777870). This variant is present in ClinVar (Variation ID:520091). This variant amino acid Leucine (Leu) is present in >40 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.