Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851811 | SCV000899779 | pathogenic | Hypofibrinogenemia | 2019-02-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002496394 | SCV002811072 | pathogenic | Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia | 2022-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513088 | SCV003289462 | pathogenic | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs146387238, gnomAD 0.009%). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 16415). This variant is also known as IVS4+1G>T. Disruption of this splice site has been observed in individuals with hereditary fibrinogen abnormalities (PMID: 10891444, 30349899). This sequence change affects a donor splice site in intron 4 of the FGA gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. |
OMIM | RCV000017877 | SCV000038156 | pathogenic | Congenital afibrinogenemia | 2000-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000030942 | SCV000038160 | pathogenic | Familial hypodysfibrinogenemia | 2004-04-01 | no assertion criteria provided | literature only |