ClinVar Miner

Submissions for variant FIBRINOGEN PARIS 1

gnomAD frequency: 0.00546  dbSNP: rs2066862
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247352 SCV002516368 pathogenic Congenital afibrinogenemia 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317040 SCV004021182 uncertain significance not specified 2024-09-09 criteria provided, single submitter clinical testing Variant summary: FGG c.1129+632A>G is located at a position not widely known to affect splicing. Two computational tools predict a significant impact on normal splicing, suggesting the variant creates a cryptic 3' acceptor site. Two predict the variant has no significant impact on splicing. At least one publication reports experimental evidence that this variant affects mRNA splicing, resulting in a 45 base pair and 15 amino acid insertion between exons 8 and 9 (Rosenberg_1993). The variant allele was found at a frequency of 0.0046 in 31402 control chromosomes (gnomAD). The observed variant frequency exceeds the estimated maximal expected allele frequency for a pathogenic variant in FGG causing Congenital Dysfibrinogenemia phenotype. c.1129+632A>G has been reported in the literature in an individual affected with Congenital Dysfibrinogenemia (Rosenberg_1993). These data do not allow any conclusion about variant significance. The following publication has been ascertained in the context of this evaluation (PMID: 8470043). ClinVar contains an entry for this variant (Variation ID: 16371). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV003436923 SCV004151191 benign not provided 2024-06-01 criteria provided, single submitter clinical testing FGG: BS1, BS2
OMIM RCV000017793 SCV000038072 other FIBRINOGEN PARIS 1 2014-09-26 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003934838 SCV004747242 uncertain significance FGG-related disorder 2024-08-07 no assertion criteria provided clinical testing The FGG c.1129+632A>G variant is predicted to interfere with splicing. This variant (as n.6588A>G) was reported in an individual with dysfibrinogenemia and was functionally shown to result in the insertion of a 45 bp fragment between exons 8 and 9 during splicing (Rosenberg et al. 1993. PubMed ID: 8470043). This variant is reported in 1.0% of alleles in individuals of Ashkenazi Jewish 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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