Submissions for variant NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)

gnomAD frequency: 0.00002  dbSNP: rs761629787

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001752318	SCV001988395	uncertain significance	not provided	2019-12-06	criteria provided, single submitter	clinical testing	Reported in a newborn with features compatible with Adams-Oliver syndrome (Aarabi et al., 2018); 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 that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29392406)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001882845	SCV002214847	likely benign	Adams-Oliver syndrome 5	2024-12-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001882845	SCV002553952	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271292	SCV002553954	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Daryl Scott Lab, Baylor College of Medicine	RCV001882845	SCV005911509	uncertain significance	Adams-Oliver syndrome 5	2024-04-01	criteria provided, single submitter	clinical testing	PP3