Submissions for variant NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)

gnomAD frequency: 0.00041  dbSNP: rs35031555

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002170008	SCV002335007	benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002551337	SCV003759144	uncertain significance	Inborn genetic diseases	2022-07-08	criteria provided, single submitter	clinical testing	The c.3629G>A (p.R1210H) alteration is located in exon 22 (coding exon 22) of the NOTCH3 gene. This alteration results from a G to A substitution at nucleotide position 3629, causing the arginine (R) at amino acid position 1210 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002170008	SCV004562193	likely benign	not provided	2023-03-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002170008	SCV005315454	benign	not provided		criteria provided, single submitter	not provided
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine	RCV002285182	SCV002575047	uncertain significance	Pulmonary arterial hypertension	2022-09-26	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538782	SCV004747423	likely benign	NOTCH3-related disorder	2022-11-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).