Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155904 | SCV000205615 | uncertain significance | not specified | 2016-09-16 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ambry Genetics | RCV002313003 | SCV000738905 | likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2017-06-07 | criteria provided, single submitter | clinical testing | The p.G1987R variant (also known as c.5959G>C), located in coding exon 48 of the FBN1 gene, results from a G to C substitution at nucleotide position 5959. The glycine at codon 1987 is replaced by arginine, an amino acid with dissimilar properties, and is located in the cbEGF-like #30 domain. This alteration has been reported in an individual with Marfan syndrome (Comeglio P et al. Hum. Mutat., 2001 Dec;18:546-7). Additionally, based on internal structural assessment, this alteration results in the structural distortion of the cbEGF-like #30 domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Clinical Genetics and Genomics, |
RCV001269653 | SCV001449795 | pathogenic | not provided | 2014-10-23 | criteria provided, single submitter | clinical testing |