Submissions for variant NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn)

gnomAD frequency: 0.00093  dbSNP: rs200100726

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000475092	SCV000559891	likely benign	Adams-Oliver syndrome 5	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001707702	SCV000732485	likely benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313216	SCV000739487	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2017-06-29	criteria provided, single submitter	clinical testing	The p.D1836N variant (also known as c.5506G>A), located in coding exon 30 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5506. The aspartic acid at codon 1836 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323555	SCV004029546	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972788	SCV004788770	likely benign	NOTCH1-related condition	2020-03-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).