ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)

gnomAD frequency: 0.00003  dbSNP: rs777684045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521074 SCV000621527 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26776195)
Invitae RCV000818617 SCV000959239 benign Adams-Oliver syndrome 5 2023-08-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798869 SCV002043515 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000818617 SCV002553499 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270635 SCV002553500 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497034 SCV002791777 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2022-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003419914 SCV004113075 uncertain significance NOTCH1-related condition 2023-08-09 criteria provided, single submitter clinical testing The NOTCH1 c.3341G>A variant is predicted to result in the amino acid substitution p.Arg1114His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139402576-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.