ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)

dbSNP: rs781018006
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 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.
GeneDx 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, 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.