Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262621 | SCV001440558 | uncertain significance | Marfan syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
CHEO Genetics Diagnostic Laboratory, |
RCV001799058 | SCV002041972 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-10-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003770366 | SCV004597244 | uncertain significance | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-06-17 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 982896). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 29 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. |