ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.571G>A (p.Gly191Arg)

gnomAD frequency: 0.00339  dbSNP: rs6063
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851827 SCV000899811 uncertain significance Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791084 SCV000930354 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000963143 SCV001110279 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144043 SCV001304618 benign Congenital afibrinogenemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222000 SCV002499578 uncertain significance Familial dysfibrinogenemia criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963143 SCV004151193 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FGG: BS2
OMIM RCV000017800 SCV000038079 pathogenic Fibrinogen Milano XII, digenic 2001-07-15 no assertion criteria provided literature only
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000963143 SCV001554313 uncertain significance not provided no assertion criteria provided clinical testing The FGG p.Gly191Arg variant was not identified in the literature nor was it identified in Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs6063) as "With Pathogenic allele" and in ClinVar (variant classified as pathogenic by OMIM; associated condition is digenic Fibrinogen Milano XII) The variant was identified in control databases in 784 of 282600 chromosomes (4 homozygous) at a frequency of 0.002774 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European (non-Finnish) in 596 of 128994 chromosomes (freq: 0.00462), Ashkenazi Jewish in 39 of 10360 chromosomes (freq: 0.003764), Other in 26 of 7216 chromosomes (freq: 0.003603), Latino in 85 of 35390 chromosomes (freq: 0.002402), African in 23 of 24960 chromosomes (freq: 0.000922), European (Finnish) in 11 of 25120 chromosomes (freq: 0.000438) and South Asian in 4 of 30610 chromosomes (freq: 0.000131), while the variant was not observed in the and East Asian population. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.Gly191 residue is conserved across mammals and other organisms, and four out of five computational analyses (PolyPhen-2, SIFT, BLOSUM, MutationTaster) suggest that the G variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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