Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000556661 | SCV000627889 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-09-10 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001191187 | SCV001358913 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-17 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with lysine at codon 1099 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/282882 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002476105 | SCV002792883 | uncertain significance | Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome | 2021-08-13 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV000663623 | SCV004814817 | uncertain significance | Marfan syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with lysine at codon 1099 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/282882 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV001191187 | SCV005113160 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-05-28 | criteria provided, single submitter | clinical testing | The p.E1099K variant (also known as c.3295G>A), located in coding exon 26 of the FBN1 gene, results from a G to A substitution at nucleotide position 3295. The glutamic acid at codon 1099 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Center for Medical Genetics Ghent, |
RCV000663623 | SCV000786945 | uncertain significance | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |