ClinVar Miner

Submissions for variant NM_000587.4(C7):c.659G>A (p.Arg220Gln)

gnomAD frequency: 0.00017  dbSNP: rs369349760
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343864 SCV001537882 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 220 of the C7 protein (p.Arg220Gln). This variant is present in population databases (rs369349760, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of complement C7 deficiency (PMID: 9856499). This variant is also known as R198Q. ClinVar contains an entry for this variant (Variation ID: 1040255). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt C7 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002070217 SCV002495979 uncertain significance Complement component 7 deficiency 2021-07-16 criteria provided, single submitter clinical testing C7 NM_000587.3 exon 7 p.Arg220Gln (c.659G>A): This variant has been reported in the literature in 1 individual with C7 deficiency (published as p.Arg198Gln; Fernie 1998 PMID:9856499). This variant is present in 0.03% (5/15252) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/5-40945289-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1040255). This variant amino acid Glutamine (Gln) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002070217 SCV002793386 uncertain significance Complement component 7 deficiency 2021-10-27 criteria provided, single submitter clinical testing

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.