Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315260 | SCV000739745 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2016-07-21 | criteria provided, single submitter | clinical testing | The c.633_635dupTGG pathogenic mutation (also known as p.G212dup), located in coding exon 4 of the TGFBR1 gene, results from an in-frame duplication of TGG at nucleotide positions 633 to 635. This results in the duplication of an extra residue between codons 212 and 213. This alteration was confirmed as de novo in a proband tested by our laboratory whose clinical features are consistent with Loeys-Dietz syndrome. Based on the available evidence, c.633_635dupTGG is classified as a pathogenic mutation. |