Submissions for variant NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)

gnomAD frequency: 0.00001  dbSNP: rs754529382

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000788985	SCV000928293	uncertain significance	not provided	2019-03-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001856231	SCV002281925	likely benign	Adams-Oliver syndrome 5	2024-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001856231	SCV002553963	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271039	SCV002553965	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002352303	SCV002654799	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-02-28	criteria provided, single submitter	clinical testing	The p.P407L variant (also known as c.1220C>T), located in coding exon 7 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1220. The proline at codon 407 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Department of Human Genetics, Nagasaki University	RCV003159074	SCV003762184	other	Cholesteatoma of middle ear		criteria provided, single submitter	research	variant allele frequency in tumor is 0.0433 (41/905)