Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196344 | SCV000250210 | uncertain significance | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | Reported in one individual with suspected heritable thoracic aortic disorder (PMID: 29907982); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); This variant is associated with the following publications: (PMID: 19006240, 18767143, 29907982) |
Invitae | RCV000466570 | SCV000553203 | benign | Congenital contractural arachnodactyly | 2023-10-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002171 | SCV001160031 | uncertain significance | not specified | 2018-11-07 | criteria provided, single submitter | clinical testing | The FBN2 c.4418G>A; p.Arg1473His variant (rs140812463) to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213327). This variant is found on five chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 1473 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg1473His variant is uncertain at this time. |
Genome Diagnostics Laboratory, |
RCV002277527 | SCV002565926 | uncertain significance | Ehlers-Danlos syndrome | 2020-08-07 | criteria provided, single submitter | clinical testing |