ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) (rs61751541)

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
Invitae RCV000461782 SCV000548935 likely benign Adams-Oliver syndrome 5 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619426 SCV000739409 uncertain significance Cardiovascular phenotype 2016-05-03 criteria provided, single submitter clinical testing The p.R1438H variant (also known as c.4313G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4313. The arginine at codon 1438 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics,Fulgent Genetics RCV000766059 SCV000897515 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001565647 SCV001789032 uncertain significance not provided 2019-08-21 no assertion criteria provided clinical testing Has not been previously published in association with connective tissue disorders to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 409054; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26353884)

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.