Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208111 | SCV000263900 | likely benign | not specified | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000799739 | SCV000939415 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989326 | SCV001139608 | benign | Marfan syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184036 | SCV001349908 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-23 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with asparagine at codon 1191 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). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with fusiform intracranial aneurysm (PMID: 31538843) and in another individual affected with sporadic thoracic aortic aneurysm and dissection (PMID: 26272055). This variant has been identified in 3/276906 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. |
All of Us Research Program, |
RCV000989326 | SCV004814790 | uncertain significance | Marfan syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with asparagine at codon 1191 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). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with fusiform intracranial aneurysm (PMID: 31538843) and in another individual affected with sporadic thoracic aortic aneurysm and dissection (PMID: 26272055). This variant has been identified in 3/276906 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. |