Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000019645 | SCV000756582 | pathogenic | Hereditary antithrombin deficiency | 2017-11-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SERPINC1 are known to be pathogenic (PMID: 21264449). This variant has been reported in individuals and families affected with antithrombin deficiency (PMID: 1873224, 23910795). This variant is also known as Arg129* in the literature. ClinVar contains an entry for this variant (Variation ID: 18029). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg161*) in the SERPINC1 gene. It is expected to result in an absent or disrupted protein product. |
| Gene |
RCV001588819 | SCV001817271 | pathogenic | not provided | 2019-08-23 | criteria provided, single submitter | clinical testing | Identified in multiple patients with AT deficiency in published literature (Grandrille et al., 1991; Castaldo et al., 2012; Wypasek et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31885188, 1873224, 24196373, 22398878, 28607330, 30237862, 28300866, 23910795, 25525159) |
| Juno Genomics, |
RCV000019645 | SCV005415902 | pathogenic | Hereditary antithrombin deficiency | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1+PS4_Supporting+PP4 | |
| OMIM | RCV000019645 | SCV000039943 | pathogenic | Hereditary antithrombin deficiency | 1991-07-01 | no assertion criteria provided | literature only |