ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)

gnomAD frequency: 0.00006  dbSNP: rs374202040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706349 SCV000835393 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001759420 SCV001986397 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002493247 SCV002794464 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2022-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534464 SCV003747550 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.2788A>C (p.N930H) alteration is located in exon 14 (coding exon 14) of the IFIH1 gene. This alteration results from a A to C substitution at nucleotide position 2788, causing the asparagine (N) at amino acid position 930 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.