Submissions for variant NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)

gnomAD frequency: 0.00025  dbSNP: rs200833729

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652096	SCV000773964	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2025-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200143	SCV001371025	likely benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003163000	SCV003865803	likely benign	Inborn genetic diseases	2023-01-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001200143	SCV005256382	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV001200143	SCV005412901	uncertain significance	not provided	2023-08-16	criteria provided, single submitter	clinical testing	BP4
PreventionGenetics, part of Exact Sciences	RCV003965397	SCV004784933	likely benign	IFIH1-related disorder	2023-01-24	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).