Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000263258 | SCV000442871 | likely benign | Marfan syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000315631 | SCV000442872 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000354050 | SCV000442873 | likely benign | Loeys-Dietz syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000315631 | SCV003459858 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-09-22 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt TGFBR2 protein function. ClinVar contains an entry for this variant (Variation ID: 344661). This variant is also known as c.1117C>T, p.Arg373Cys. This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 29907982). This variant is present in population databases (rs144701411, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 348 of the TGFBR2 protein (p.Arg348Cys). |