ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.331A>T (p.Lys111Ter)

dbSNP: rs1578812509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851634 SCV000899674 pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987698 SCV004804201 pathogenic Familial dysfibrinogenemia 2024-01-05 criteria provided, single submitter clinical testing Variant summary: FGG c.331A>T (p.Lys111X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249532 control chromosomes (gnomAD). c.331A>T has been reported in the literature in individuals affected with Congenital Dysfibrinogenemia (Zawilska_2010, Smith_2018, Weronska_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20135062, 30349899, 35975558). ClinVar contains an entry for this variant (Variation ID: 626954). Based on the evidence outlined above, the variant was classified as pathogenic.
GeneDx RCV004721586 SCV005327352 pathogenic not provided 2024-03-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Published functional studies demonstrate absence of a full or truncated gamma subunit of fibrinogen in transfected cells, suggesting that the resulting protein is highly unstable if produced (PMID: 20135062); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 35067535, 31797863, 20135062, 31064749, 31479941, 35975558, 30349899)

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