ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg)

dbSNP: rs1559456531
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699100 SCV000827795 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TGFBR2-related disease. 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 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 is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 51 of the TGFBR2 protein (p.Cys51Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.

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