Submissions for variant NM_017617.5(NOTCH1):c.714C>T (p.Asp238=)

gnomAD frequency: 0.00002  dbSNP: rs532058137

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606749	SCV000719298	likely benign	not specified	2017-05-12	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	RCV002368058	SCV002662746	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002529551	SCV003245253	likely benign	Adams-Oliver syndrome 5	2024-12-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530775	SCV004742220	likely benign	NOTCH1-related disorder	2019-09-11	no assertion criteria provided	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).