Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001082629 | SCV000557042 | benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2024-01-08 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586312 | SCV000695497 | benign | not provided | 2016-07-15 | criteria provided, single submitter | clinical testing | Variant summary: The FBN1 c.2892C>T (p.Asp964Asp) variant involves the alteration of a non-conserved nucleotide located in TB domain, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 44/120976 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.0037011 (32/8646). This frequency is about 33 times the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, one internal sample carries the variant of interest and c.4337-1G>A (classified pathogenic). Taken together, this variant is classified as benign. |
| Eurofins Ntd Llc |
RCV000731641 | SCV000859485 | likely benign | not specified | 2018-02-14 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000586312 | SCV000984230 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001185989 | SCV001352310 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001185989 | SCV002750562 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-23 | 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. |
| All of Us Research Program, |
RCV004002114 | SCV004814861 | benign | Marfan syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |