Submissions for variant NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)

dbSNP: rs775217381

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522085	SCV000618227	uncertain significance	not provided	2023-05-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000655245	SCV000777175	benign	Adams-Oliver syndrome 5	2023-09-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798867	SCV002043504	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2020-06-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000655245	SCV002553929	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270625	SCV002553932	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506270	SCV002814391	uncertain significance	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-07-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001798867	SCV003999750	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2024-01-09	criteria provided, single submitter	clinical testing	The c.1753G>A (p.A585T) alteration is located in exon 11 (coding exon 11) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 1753, causing the alanine (A) at amino acid position 585 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.