ClinVar Miner

Submissions for variant NM_001735.3(C5):c.3413G>A (p.Arg1138Gln)

gnomAD frequency: 0.00002  dbSNP: rs779879112
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767912 SCV000898559 uncertain significance Complement component 5 deficiency 2018-07-03 criteria provided, single submitter clinical testing C5 NM_001735.2 exon 27 p.Arg1138Gln (c.3413G>A): This variant has not been reported in the literature but is present in 0.1% (53/34416) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs779879112). This variant amino acid Glutamine (Gln) is present in >20 species 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855965 SCV002140175 uncertain significance not provided 2024-12-18 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 1138 of the C5 protein (p.Arg1138Gln). This variant is present in population databases (rs779879112, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with C5-related conditions. ClinVar contains an entry for this variant (Variation ID: 625902). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt C5 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002485978 SCV002777072 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2022-02-11 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002485978 SCV003920603 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-03-30 criteria provided, single submitter clinical testing C5 NM_001735.2 exon 27 p.Arg1138Gln (c.3413G>A): This variant has not been reported in the literature but is present in 0.1% (53/34416) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs779879112). This variant amino acid Glutamine (Gln) is present in >20 species 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.
Breakthrough Genomics, Breakthrough Genomics RCV001855965 SCV005190537 uncertain significance not provided criteria provided, single submitter not provided

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.