Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513106 | SCV003522648 | pathogenic | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln208*) in the C1QA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the C1QA protein. This variant is present in population databases (rs121909581, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with C1q deficiency (PMID: 7594474, 8840296, 9225968, 21654842, 26563161, 29739689, 30008451). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gln186*. ClinVar contains an entry for this variant (Variation ID: 17073). For these reasons, this variant has been classified as Pathogenic. |
Kasturba Medical College, |
RCV000018602 | SCV004030492 | pathogenic | C1Q deficiency | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000018602 | SCV000038885 | pathogenic | C1Q deficiency | 1997-07-01 | no assertion criteria provided | literature only |