Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV003150676 | SCV003838343 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-05-10 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004804588 | SCV005424732 | uncertain significance | Marfan syndrome | 2024-08-13 | criteria provided, single submitter | clinical testing | This missense variant replaces tyrosine with phenylalanine at codon 2062 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 not been identified 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. |
Color Diagnostics, |
RCV003150676 | SCV006063420 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-07-24 | criteria provided, single submitter | clinical testing | This missense variant replaces tyrosine with phenylalanine at codon 2062 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 not been identified 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. |