ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2016del (p.Asp673fs)

gnomAD frequency: 0.00028  dbSNP: rs773033563
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704039 SCV000832972 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000986844 SCV001135986 likely benign Singleton-Merten syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091997 SCV001248325 likely pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing IFIH1: PVS1:Strong, PM2, PM3:Supporting
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001091997 SCV002818287 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001091997 SCV003926073 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Observed as a homozygous variant in a patient with very early onset inflammatory bowel disease (Cananzi et al., 2021); Published functional study demonstrates that variant significantly reduces MDA5 protein activity and results in a truncated protein; however, conditions associated with pathogenic variants in IFIH1 are typically gain of function (Cananzi et al., 2021); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 34185153)
Baylor Genetics RCV001844227 SCV004041277 uncertain significance Immunodeficiency 95 2023-02-17 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731900 SCV001984543 likely benign Aicardi-Goutieres syndrome 7 2020-01-02 flagged submission clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001779064 SCV002014774 risk factor Multisystem inflammatory syndrome in children 2021-11-14 flagged submission research
OMIM RCV001844227 SCV002102822 pathogenic Immunodeficiency 95 2022-03-07 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.