ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg)

gnomAD frequency: 0.00019  dbSNP: rs201613894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537847 SCV000536618 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing Has not been previously published in association with a NOTCH1-related phenotype to our knowledge; Reported to occur in 0.15% of alleles from an ancestrally diverse cohort of 681 healthy individuals from 352 families who underwent cancer-susceptibility genetic testing (Bodian et al., 2014), although follow-up clinical evaluations, family histories and segregation data were not provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23860447, 24113472, 33918692, 24728327, 33735874)
Invitae RCV000539993 SCV000659485 likely benign Adams-Oliver syndrome 5 2024-01-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660177 SCV000782171 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ITMI RCV000121701 SCV000085899 not provided not specified 2013-09-19 no assertion provided reference population

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.