ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1619G>A (p.Gly540Asp)

gnomAD frequency: 0.00001  dbSNP: rs767618789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752544 SCV001997422 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Identified in a patient with bicuspid aortic valve in the published literature (Pileggi et al., 2019); however, familial segregation information and in vitro functional studies were not included and it is unknown whether this individual was screened for variants in other genes associated with bicuspid aortic valve; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31330235)
Labcorp Genetics (formerly Invitae), Labcorp RCV005095015 SCV005774781 likely benign Adams-Oliver syndrome 5 2024-07-30 criteria provided, single submitter clinical testing

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