ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs549258808
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Total submissions: 5
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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.
Invitae RCV002067456 SCV002470615 likely benign Adams-Oliver syndrome 5 2023-04-06 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 2023-04-17 criteria provided, single submitter clinical testing The p.E2075K variant (also known as c.6223G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6223. The glutamic acid at codon 2075 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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