Submissions for variant NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu)

gnomAD frequency: 0.00004  dbSNP: rs767435492

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001732939	SCV001982662	uncertain significance	not provided	2021-09-29	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics	RCV002386509	SCV002671172	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-07-27	criteria provided, single submitter	clinical testing	The p.P2462L variant (also known as c.7385C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7385. The proline at codon 2462 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002539813	SCV003257975	likely benign	Adams-Oliver syndrome 5	2024-10-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001732939	SCV004701935	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BS2