Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001201189 | SCV001372258 | likely benign | not specified | 2020-06-22 | criteria provided, single submitter | clinical testing | Variant summary: FBN1 c.8148C>T results in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-05 in 251478 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in FBN1 causing Aortopathy (4e-05 vs 0.00011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.8148C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
| Labcorp Genetics |
RCV002069296 | SCV002494210 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-03-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002418660 | SCV002680298 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV002418660 | SCV004363560 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-06 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004010615 | SCV004816529 | likely benign | Marfan syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |