Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001180842 | SCV001345875 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-04-15 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001779128 | SCV002014938 | uncertain significance | not specified | 2021-10-17 | criteria provided, single submitter | clinical testing | Variant summary: FBN1 c.737-19_737-16delGTCT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 2.1e-05 in 237036 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.737-19_737-16delGTCT in individuals affected with Marfan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
| Labcorp Genetics |
RCV003769976 | SCV004571727 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-07-11 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004006694 | SCV004816634 | likely benign | Marfan syndrome | 2023-06-28 | criteria provided, single submitter | clinical testing |