Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000017783 | SCV000038062 | other | FIBRINOGEN BALTIMORE 1 | 2014-09-26 | no assertion criteria provided | literature only | |
Prevention |
RCV003944828 | SCV004760048 | uncertain significance | FGG-related disorder | 2023-11-08 | no assertion criteria provided | clinical testing | The FGG c.953G>T variant is predicted to result in the amino acid substitution p.Gly318Val. This variant has been reported in a study of Fibrinogen Baltimore I (Reported as p.Gly292Val, Bantia et al. 1990. PubMed ID: 2257302). A different missense variant (c.952G>A, p.Gly318Ser) in the same codon has been reported in the heterozygous state in individuals in a cohort study of patients with bleeding disorders (Downes et al. 2019. PubMed ID: 31064749. Suppl3_SNV+INDEL). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |