ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)

gnomAD frequency: 0.00477  dbSNP: rs143654474
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463513 SCV000559892 benign Adams-Oliver syndrome 5 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000603896 SCV000714730 benign not specified 2017-01-18 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 RCV000769612 SCV000739352 benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-12 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 RCV000769612 SCV000901009 benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000463513 SCV002555104 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270526 SCV002555105 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002475912 SCV002796716 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603896 SCV004029556 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718696 SCV005323800 benign not provided criteria provided, single submitter not provided

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