ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp)

gnomAD frequency: 0.00004  dbSNP: rs754374362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002355424 SCV002623269 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-22 criteria provided, single submitter clinical testing The p.N386D variant (also known as c.1156A>G), located in coding exon 7 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 1156. The asparagine at codon 386 is replaced by aspartic acid, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005096411 SCV005771785 benign Adams-Oliver syndrome 5 2025-02-02 criteria provided, single submitter clinical testing

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