ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)

gnomAD frequency: 0.00003  dbSNP: rs549258808
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
GeneDx RCV000827503 SCV000969154 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067456 SCV002470615 likely benign Adams-Oliver syndrome 5 2024-02-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002067456 SCV002553882 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271055 SCV002553883 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363182 SCV002658186 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-18 criteria provided, single submitter clinical testing The c.6223G>A (p.E2075K) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6223, causing the glutamic acid (E) at amino acid position 2075 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.