Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198915 | SCV000250303 | uncertain significance | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Does not occur within a calcium-binding-EGF-like domain (Callewaert et al., 2009, Frederic et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function |
Invitae | RCV000474999 | SCV000553170 | likely benign | Congenital contractural arachnodactyly | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363008 | SCV002661128 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-31 | criteria provided, single submitter | clinical testing | The p.K2112E variant (also known as c.6334A>G), located in coding exon 50 of the FBN2 gene, results from an A to G substitution at nucleotide position 6334. The lysine at codon 2112 is replaced by glutamic acid, an amino acid with similar properties, and is located in the TGFB #06 domain. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |