Submissions for variant NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)

dbSNP: rs764816819

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002315139	SCV000739511	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2017-12-01	criteria provided, single submitter	clinical testing	The p.Q1117R variant (also known as c.3350A>G), located in coding exon 21 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 3350. The glutamine at codon 1117 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and arginine 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001321816	SCV001512665	likely benign	Adams-Oliver syndrome 5	2022-12-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001321816	SCV002553497	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270921	SCV002553498	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing