Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000459498 | SCV000544830 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181127 | SCV001346213 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-06 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 2616 of the FBN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 3/251204 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, |
RCV002506108 | SCV002814168 | 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 | 2022-03-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000663985 | SCV004816734 | uncertain significance | Marfan syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 2616 of the FBN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 3/251204 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. |
Center for Medical Genetics Ghent, |
RCV000663985 | SCV000787368 | uncertain significance | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |