ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2138C>G (p.Thr713Ser)

gnomAD frequency: 0.00009  dbSNP: rs201841403
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 RCV000875879 SCV001018357 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539996 SCV003718756 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.2138C>G (p.T713S) alteration is located in exon 11 (coding exon 11) of the IFIH1 gene. This alteration results from a C to G substitution at nucleotide position 2138, causing the threonine (T) at amino acid position 713 to be replaced by a serine (S). 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.