Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038491 | SCV001201961 | uncertain significance | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2019-12-04 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has been observed in individual(s) with Marfan syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 367 of the FBN1 protein (p.Ser367Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |