Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
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, |
RCV002070217 | SCV002793386 | uncertain significance | Complement component 7 deficiency | 2021-10-27 | criteria provided, single submitter | clinical testing |