ClinVar Miner

Submissions for variant NM_005141.5(FGB):c.298C>T (p.Pro100Ser)

gnomAD frequency: 0.00134  dbSNP: rs2227434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862329 SCV001002821 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148165 SCV001309035 uncertain significance 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489944 SCV004242050 uncertain significance not specified 2023-12-01 criteria provided, single submitter clinical testing Variant summary: FGB c.298C>T (p.Pro100Ser) results in a non-conservative amino acid change located in the Fibrinogen, alpha/beta/gamma chain, coiled coil domain (IPR012290) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 246910 control chromosomes in the gnomAD database, including 1 homozygotes. To our knowledge, c.298C>T has not been reported in the literature in individuals affected with Afibrinogenemia, Congenital and no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 22353194). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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