ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)

gnomAD frequency: 0.00017  dbSNP: rs750242131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476532 SCV000548957 likely benign Adams-Oliver syndrome 5 2023-12-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798838 SCV002043526 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001805069 SCV002050519 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing Reported in one individual with bicuspid aortic valve (Dargis et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#409074; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26708639)
Genome-Nilou Lab RCV000476532 SCV002554005 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270507 SCV002554006 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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