ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)

gnomAD frequency: 0.00006  dbSNP: rs575678322
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000652097 SCV000773965 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000652097 SCV001468421 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2020-08-20 criteria provided, single submitter clinical testing IFIH1 NM_022168.3 exon 6 p.Gln415Lys (c.1243C>A): This variant has not been reported in the literature but is present in 0.03% (11/34428) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163138939-G-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:541774). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV003159148 SCV003852997 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224370 SCV003920043 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-03-30 criteria provided, single submitter clinical testing IFIH1 NM_022168.3 exon 6 p.Gln415Lys (c.1243C>A): This variant has not been reported in the literature but is present in 0.03% (11/34428) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-163138939-G-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:541774). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.