Submissions for variant NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)

dbSNP: rs147278787

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000873861	SCV001015945	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000986846	SCV001135988	likely benign	Singleton-Merten syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001548182	SCV001768046	uncertain significance	not provided	2020-01-10	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in an individual with systemic lupus erythematosus, but detailed clinical information was not provided (Almlof et al., 2019); This variant is associated with the following publications: (PMID: 30707351)
Institute of Human Genetics, University Hospital of Duesseldorf	RCV003336224	SCV004046700	uncertain significance	Basal ganglia calcification, idiopathic, childhood-onset		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001548182	SCV004147092	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	IFIH1: BP4
PreventionGenetics, part of Exact Sciences	RCV003930406	SCV004744683	likely benign	IFIH1-related condition	2019-05-10	criteria provided, single submitter	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).