ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)

gnomAD frequency: 0.00004  dbSNP: rs367873715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815975 SCV000956459 benign Adams-Oliver syndrome 5 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406855 SCV002724127 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-05 criteria provided, single submitter clinical testing The p.D622N variant (also known as c.1864G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1864. The aspartic acid at codon 622 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine 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.

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