ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)

gnomAD frequency: 0.00018  dbSNP: rs200816814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545712 SCV000659394 likely benign Adams-Oliver syndrome 5 2023-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764818 SCV000895969 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545712 SCV002553572 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270681 SCV002553573 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420545 SCV002724819 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-25 criteria provided, single submitter clinical testing The p.D740N variant (also known as c.2218G>A), located in coding exon 14 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2218. The aspartic acid at codon 740 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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