Submissions for variant NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)

gnomAD frequency: 0.00093  dbSNP: rs61751553

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228362	SCV000290245	benign	Adams-Oliver syndrome 5	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000429504	SCV000530490	likely benign	not specified	2018-02-20	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	RCV000769599	SCV000738429	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-12-05	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660147	SCV000782141	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769599	SCV000900996	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532187	SCV001747624	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1
Genome-Nilou Lab	RCV000228362	SCV002554995	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270033	SCV002554996	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002479924	SCV002802517	benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2022-03-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429504	SCV004039002	benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001532187	SCV004564041	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541442	SCV004770100	likely benign	NOTCH1-related disorder	2019-04-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001532187	SCV001809717	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532187	SCV001973542	likely benign	not provided		no assertion criteria provided	clinical testing