Submissions for variant NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)

gnomAD frequency: 0.00005  dbSNP: rs745681787

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000805121	SCV000945065	benign	Adams-Oliver syndrome 5	2024-01-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798981	SCV002043525	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2019-08-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000805121	SCV002553412	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271044	SCV002553413	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001580068	SCV003927447	uncertain significance	not provided	2023-05-22	criteria provided, single submitter	clinical testing	Has been reported in an individual with bicuspid aortic valve (BAV) (Girdauskas et al., 2017), although this individual also carried an AXIN1 variant.; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30059548, 28387797)
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580068	SCV001809554	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580068	SCV001970030	uncertain significance	not provided		no assertion criteria provided	clinical testing
GenomeConnect - Brain Gene Registry	RCV000805121	SCV002030781	not provided	Adams-Oliver syndrome 5		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 05-07-2020 by Lab or GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.