ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.691T>C (p.Cys231Arg)

dbSNP: rs1730226269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251083 SCV002521474 uncertain significance Congenital afibrinogenemia 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.86; 3Cnet: 0.63). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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