Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001192293 | SCV001360322 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-12-05 | criteria provided, single submitter | clinical testing | This synonymous variant does not change the amino acid sequence of the TGFBR1 protein. Splice site prediction tools suggest that this variant may impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Gene |
RCV001760150 | SCV001999325 | uncertain significance | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar (ClinVar Variant ID# 626775; Landrum et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; No TGFBR1 synonymous splicing variants are reported in HGMD in association with connective tissue disease (Stenson et al., 2014) |
| Fulgent Genetics, |
RCV002504217 | SCV002813420 | uncertain significance | Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma | 2021-10-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001192293 | SCV004053373 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-21 | criteria provided, single submitter | clinical testing | The c.1065A>G variant (also known as p.A355A), located in coding exon 6 of the TGFBR1 gene, results from an A to G substitution at nucleotide position 1065. This nucleotide substitution does not change the alanine at codon 355. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |