ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)

gnomAD frequency: 0.00404  dbSNP: rs76371972
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227779 SCV000290276 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000770625 SCV000319658 benign Familial thoracic aortic aneurysm and aortic dissection 2015-05-21 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000424103 SCV000511600 benign not provided 2016-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121689 SCV000539940 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV000121689 SCV000730373 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770625 SCV000902076 benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-12 criteria provided, single submitter clinical testing
Mendelics RCV000227779 SCV001137962 benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000227779 SCV002554371 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269860 SCV002554373 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121689 SCV004029510 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000424103 SCV004564053 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
ITMI RCV000121689 SCV000085887 not provided not specified 2013-09-19 no assertion provided reference population

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