ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn)

gnomAD frequency: 0.00001  dbSNP: rs375978224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001998474 SCV002264897 benign Adams-Oliver syndrome 5 2023-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002344155 SCV002649669 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-30 criteria provided, single submitter clinical testing The p.D1912N variant (also known as c.5734G>A), located in coding exon 31 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5734. The aspartic acid at codon 1912 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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