ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)

gnomAD frequency: 0.00038  dbSNP: rs61751550
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554756 SCV000659409 benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000614432 SCV000715012 benign not specified 2017-04-11 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 RCV000770639 SCV000739384 benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-10 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 RCV000770639 SCV000902091 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554756 SCV002554920 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270685 SCV002554922 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614432 SCV004029534 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736817 SCV004562112 benign not provided 2023-06-01 criteria provided, single submitter clinical testing

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