ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)

gnomAD frequency: 0.00070  dbSNP: rs374230681
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539156 SCV000659422 benign Adams-Oliver syndrome 5 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313935 SCV000739356 benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-03 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.
GeneDx RCV001564352 SCV001787508 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24277457, 27611364)
Genome-Nilou Lab RCV000539156 SCV002554502 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269853 SCV002554503 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000121676 SCV000085874 not provided not specified 2013-09-19 no assertion provided reference population

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