ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala)

dbSNP: rs779052721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476748 SCV000548107 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-10-04 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs779052721, ExAC 0.009%) but has not been reported in the literature in individuals with a TGFBR2-related disease. This sequence change replaces valine with alanine at codon 167 of the TGFBR2 protein (p.Val167Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Ambry Genetics RCV000476748 SCV002644544 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-08-19 criteria provided, single submitter clinical testing The p.V167A variant (also known as c.500T>C), located in coding exon 4 of the TGFBR2 gene, results from a T to C substitution at nucleotide position 500. The valine at codon 167 is replaced by alanine, an amino acid with similar properties. Based on data from ExAC, the C allele has an overall frequency of less than 0.01% (1/106174). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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