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 2024-01-23 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, predicting that it creates a cryptic 3' splice 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 0.0053 in 152250 control chromosomes, predominantly at a frequency of 0.0092 within the Non-Finnish European subpopulation in the gnomAD database v4. 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). The following publication have 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 VUS.
CeGaT Center for Human Genetics Tuebingen RCV003436923 SCV004151191 benign not provided 2024-03-01 criteria provided, single submitter clinical testing FGG: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003934838 SCV004747242 uncertain significance FGG-related disorder 2023-11-21 criteria provided, single submitter 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 Dysfibrinogenaemia 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.
OMIM RCV000017793 SCV000038072 other FIBRINOGEN PARIS 1 2014-09-26 no assertion criteria provided literature only

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