ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003068357 SCV003450644 benign Adams-Oliver syndrome 5 2022-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070333 SCV005027270 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-26 criteria provided, single submitter clinical testing The p.N787H variant (also known as c.2359A>C), located in coding exon 15 of the NOTCH1 gene, results from an A to C substitution at nucleotide position 2359. The asparagine at codon 787 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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