Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV000664029 | SCV002025478 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |
Invitae | RCV003767943 | SCV004570868 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-05-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 549466). This variant is also known as c.8512dupA (p.Lys2838fsX5). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 15241795). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys2840Glufs*4) in the FBN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the FBN1 protein. This variant disrupts a region of the FBN1 protein in which other variant(s) (p.Gln2867*) have been determined to be pathogenic (PMID: 19293843). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Center for Medical Genetics Ghent, |
RCV000664029 | SCV000787421 | uncertain significance | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |