Submissions for variant NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)

dbSNP: rs3775291

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455666	SCV000540533	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF. Associated with susceptibility to infections, rheumatoid arthritis. Some functional evidence to show reduced IFN and TNF secretion in response to stimulation. This may be a risk allele, but unlikely to cause disease on its own
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000610503	SCV000743658	likely benign	Immunodeficiency 83, susceptibility to viral infections	2016-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV001519768	SCV001728696	benign	Herpes simplex encephalitis, susceptibility to, 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001642535	SCV001855996	benign	not provided	2019-10-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29290528, 24371259, 26298326, 31445170, 28046022, 23240626, 17434873, 18325643, 22549436, 18753640, 20413676, 20472559, 20855885, 21093032, 19016379, 21216866, 22174453, 22537752, 22504413, 21712495, 25304972, 22024499)
Fulgent Genetics, Fulgent Genetics	RCV002490456	SCV002803130	benign	Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections	2021-08-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974868	SCV004798456	benign	TLR3-related condition	2024-01-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM	RCV000034357	SCV000058339	protective	Susceptibility to HIV infection	2018-08-08	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610503	SCV000734332	benign	Immunodeficiency 83, susceptibility to viral infections		no assertion criteria provided	clinical testing