Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197656 | SCV000250262 | uncertain significance | not provided | 2013-07-10 | criteria provided, single submitter | clinical testing | p.Glu2901Lys (GAG>AAG): c.8701 G>A in exon 65 of the FBN2 gene (NM_001999.3) The Glu2901Lys variant in the FBN2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu2901Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is conserved in mammals. Nevertheless, no mutations in nearby residues have been reported in association with contractural arachnodactyly. Data from control individuals were not available to assess whether Glu2901Lys may be a common benign variant in the general population. With the clinical and molecular information available at this time, we cannot definitively determine if Glu2901Lys is a disease-causing mutation or a rare benign variant. This variant was found in TAAD |
Invitae | RCV001241938 | SCV001414993 | likely benign | Congenital contractural arachnodactyly | 2022-06-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372170 | SCV002684611 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-12-06 | criteria provided, single submitter | clinical testing | The p.E2901K variant (also known as c.8701G>A), located in coding exon 65 of the FBN2 gene, results from a G to A substitution at nucleotide position 8701. The glutamic acid at codon 2901 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |