ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.510+1G>T

gnomAD frequency: 0.00009  dbSNP: rs146387238
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851811 SCV000899779 pathogenic Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Fulgent Genetics, 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

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