ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)

gnomAD frequency: 0.00178  dbSNP: rs376744729
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471034 SCV000559870 benign Adams-Oliver syndrome 5 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001696885 SCV000719695 likely benign not provided 2020-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769597 SCV000739377 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-12 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769597 SCV000900994 benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000471034 SCV002554989 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270515 SCV002554990 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489122 SCV002803270 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535470 SCV004711163 benign NOTCH1-related disorder 2022-09-15 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).

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