Submissions for variant NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)

gnomAD frequency: 0.00004  dbSNP: rs751874720

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001359164	SCV001555026	benign	Adams-Oliver syndrome 5	2023-11-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002261354	SCV002541044	uncertain significance	not provided	2021-11-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001359164	SCV002553454	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271227	SCV002553455	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150425	SCV003837917	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2022-03-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003150425	SCV005027182	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-11-15	criteria provided, single submitter	clinical testing	The p.N1327S variant (also known as c.3980A>G), located in coding exon 24 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 3980. The asparagine at codon 1327 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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.