Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001319938 | SCV001510703 | uncertain significance | not provided | 2020-12-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with C1QB-related conditions. This sequence change replaces aspartic acid with asparagine at codon 23 of the C1QB protein (p.Asp23Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs555943495, ExAC 0.02%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Ambry Genetics | RCV003166852 | SCV003870860 | uncertain significance | Inborn genetic diseases | 2023-01-20 | criteria provided, single submitter | clinical testing | The c.67G>A (p.D23N) alteration is located in exon 2 (coding exon 1) of the C1QB gene. This alteration results from a G to A substitution at nucleotide position 67, causing the aspartic acid (D) at amino acid position 23 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005012766 | SCV005639878 | uncertain significance | C1Q deficiency 2 | 2024-05-23 | criteria provided, single submitter | clinical testing |