Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000238729 | SCV000296972 | uncertain significance | Loeys-Dietz syndrome | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001296215 | SCV001485173 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-03-23 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with single suture craniosynostosis (PMID: 29168297). ClinVar contains an entry for this variant (Variation ID: 252506). This variant is present in population databases (rs781018006, ExAC 0.008%). This sequence change replaces leucine with valine at codon 323 of the TGFBR2 protein (p.Leu323Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
Gene |
RCV001547011 | SCV001766628 | uncertain significance | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 252506; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 29168297) |
Fulgent Genetics, |
RCV002487107 | SCV002777678 | uncertain significance | Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 | 2021-10-05 | criteria provided, single submitter | clinical testing |