Submissions for variant NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=)

gnomAD frequency: 0.00006  dbSNP: rs373902356

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875159	SCV001017446	likely benign	Adams-Oliver syndrome 5	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001593101	SCV001817301	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing	Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV000875159	SCV002554256	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271100	SCV002554257	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004822259	SCV005456592	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-08-12	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.
PreventionGenetics, part of Exact Sciences	RCV004530830	SCV004712945	likely benign	NOTCH1-related disorder	2022-01-07	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).