ClinVar Miner

Submissions for variant NM_021871.4(FGA):c.1529G>A (p.Arg510His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005023687 SCV005658130 uncertain significance Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 2024-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735446 SCV005360747 uncertain significance FGA-related disorder 2024-07-14 no assertion criteria provided clinical testing The FGA c.1529G>A variant is predicted to result in the amino acid substitution p.Arg510His. To our knowledge, this variant has not been reported in the literature. A variant impacting the same amino acid position (c.1528C>T; p.Arg510Cys) has been published in the homozygous state in a patient with dysfibrinogenemia (Ivaškevičius et al 2023. PubMed ID: 37442158). This variant is reported in 0.019% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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