Submissions for variant NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)

gnomAD frequency: 0.00001  dbSNP: rs1417478070

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002315091	SCV000739432	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2022-08-16	criteria provided, single submitter	clinical testing	The p.D1698N variant (also known as c.5092G>A), located in coding exon 27 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5092. The aspartic acid at codon 1698 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6395 samples (12790 alleles) with coverage at this position. 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001323610	SCV001514533	likely benign	Adams-Oliver syndrome 5	2023-07-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001323610	SCV002553368	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270885	SCV002553370	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing