ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)

gnomAD frequency: 0.00001  dbSNP: rs367851471
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526902 SCV000655027 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403332 SCV004122416 uncertain significance not specified 2023-10-30 criteria provided, single submitter clinical testing Variant summary: IFIH1 c.230G>A (p.Arg77Gln) results in a conservative amino acid change located in the Caspase recruitment domain (IPR031964) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251444 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.230G>A in individuals affected with Aicardi-Goutieres Syndrome 7 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.