Submissions for variant NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)

gnomAD frequency: 0.00377  dbSNP: rs61751540

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206158	SCV000261523	benign	Adams-Oliver syndrome 5	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000442941	SCV000532836	benign	not specified	2016-11-04	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	RCV000770627	SCV000738392	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000770627	SCV000902078	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000206158	SCV002554400	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270015	SCV002554401	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000442941	SCV004029507	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723778	SCV004162018	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004541295	SCV004798471	benign	NOTCH1-related disorder	2019-04-29	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000442941	SCV001807326	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723778	SCV001952794	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723778	SCV001968670	likely benign	not provided		no assertion criteria provided	clinical testing