Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002513087 | SCV003491125 | uncertain significance | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs121913090, gnomAD 0.02%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FGG protein function. ClinVar contains an entry for this variant (Variation ID: 16365). This variant is also known as Asn308Ile. This missense change has been observed in individual(s) with dysfibrinogenemia (PMID: 2328317, 3175983). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 334 of the FGG protein (p.Asn334Ile). |
Gene |
RCV002513087 | SCV005325104 | uncertain significance | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Asn308Ile or Fibrinogen Baltimore III; This variant is associated with the following publications: (PMID: 2328317, 33260935, 3175983) |
OMIM | RCV000017785 | SCV000038064 | other | FIBRINOGEN BALTIMORE 3 | 2014-09-26 | no assertion criteria provided | literature only |