ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser)

gnomAD frequency: 0.00004  dbSNP: rs776133530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521514 SCV000619741 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing Has been observed in the control population in a study of affected individuals with left ventricular outflow tract defects (LVOT) (McBride et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18593716, 31289279)
Invitae RCV003105939 SCV003783585 benign Adams-Oliver syndrome 5 2023-04-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150255 SCV003837916 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-24 criteria provided, single submitter clinical testing

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