Submissions for variant NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)

dbSNP: rs557049479

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000556587	SCV000659415	likely benign	Adams-Oliver syndrome 5	2024-01-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170155	SCV001332705	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-09-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001770494	SCV001992351	uncertain significance	not provided	2023-04-19	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics	RCV001170155	SCV002752809	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-10-19	criteria provided, single submitter	clinical testing	The p.R955H variant (also known as c.2864G>A), located in coding exon 18 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2864. The arginine at codon 955 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
CeGaT Center for Human Genetics Tuebingen	RCV001770494	SCV004162038	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	NOTCH1: PP2, BP4