ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)

gnomAD frequency: 0.00200  dbSNP: rs36049318
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311206 SCV000320535 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-22 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.
GeneDx RCV000423634 SCV000531912 likely benign not specified 2017-07-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000471243 SCV000559896 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000471243 SCV002553777 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270188 SCV002553778 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423634 SCV004029184 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705131 SCV005228655 likely benign not provided criteria provided, single submitter not provided

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