ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) (rs79782048)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000121661 SCV000264132 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000988297 SCV000290246 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121661 SCV000520858 likely benign not specified 2017-11-28 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.
Ambry Genetics RCV000621400 SCV000738419 uncertain significance Cardiovascular phenotype 2019-08-06 criteria provided, single submitter clinical testing The p.E694K variant (also known as c.2080G>A), located in coding exon 13 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2080. The glutamic acid at codon 694 is replaced by lysine, an amino acid with similar properties. In a study of individuals with left ventricular outflow tract malformations, this variant was reported in an individual with aortic valve stenosis (McBride KL et al. Hum Mol Genet. 2008;17(18):2886-93). This amino acid position is not well conserved in available vertebrate species, and lysine 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 variant remains unclear.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660148 SCV000782142 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000988297 SCV001137965 benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170165 SCV001332715 benign Familial thoracic aortic aneurysm and aortic dissection 2018-01-19 criteria provided, single submitter clinical testing
ITMI RCV000121661 SCV000085859 not provided not specified 2013-09-19 no assertion provided reference population

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