ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) (rs863223816)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466576 SCV000548346 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-03-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 274 of the TGFBR1 protein (p.Thr274Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TGFBR1-related disease. This variant has been reported to segregate with aortopathy in a single family (Invitae). 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. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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