Submissions for variant NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)

gnomAD frequency: 0.00003  dbSNP: rs749381544

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000816736	SCV000957258	benign	Adams-Oliver syndrome 5	2023-09-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001529461	SCV001825826	likely benign	not provided	2018-08-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406862	SCV002713163	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-07-07	criteria provided, single submitter	clinical testing	The p.E601K variant (also known as c.1801G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1801. The glutamic acid at codon 601 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529461	SCV001742967	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529461	SCV001932005	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529461	SCV001952425	uncertain significance	not provided		no assertion criteria provided	clinical testing