ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)

gnomAD frequency: 0.00003  dbSNP: rs571739078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944962 SCV002135621 benign Adams-Oliver syndrome 5 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343923 SCV002649364 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-06-27 criteria provided, single submitter clinical testing The p.D1808N variant (also known as c.5422G>A), located in coding exon 29 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5422. The aspartic acid at codon 1808 is replaced by asparagine, an amino acid with highly similar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV002478160 SCV002786877 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-11 criteria provided, single submitter clinical testing

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