ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)

gnomAD frequency: 0.00001  dbSNP: rs775991013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655244 SCV000777174 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001584514 SCV001813543 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign in association with connective tissue disorders or congenital heart defects to our knowledge; Identified in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is limited or absent at this time; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 544174; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 25104330)
Genome-Nilou Lab RCV000655244 SCV002553968 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270939 SCV002553969 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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