Submissions for variant NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)

gnomAD frequency: 0.00308  dbSNP: rs113634293

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230616	SCV000290277	benign	Adams-Oliver syndrome 5	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000603497	SCV000715272	benign	not specified	2017-03-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV001171102	SCV000739351	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171102	SCV001333780	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-12-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230616	SCV002554369	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270046	SCV002554370	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000603497	SCV004029511	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532949	SCV004744014	benign	NOTCH1-related disorder	2019-10-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).