Submissions for variant NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)

dbSNP: rs149057410

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000788284	SCV000927339	uncertain significance	not provided	2017-07-14	criteria provided, single submitter	clinical testing
Invitae	RCV001241066	SCV001414056	benign	Adams-Oliver syndrome 5	2023-11-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001241066	SCV002553458	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271036	SCV002553460	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477793	SCV002789186	uncertain significance	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-11-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003307420	SCV003999768	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-03-31	criteria provided, single submitter	clinical testing	The p.V1324L variant (also known as c.3970G>T), located in coding exon 24 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 3970. The valine at codon 1324 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.