ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val) (rs1554702207)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553671 SCV000658842 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-05-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 379 of the TGFBR1 protein (p.Met379Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with incomplete Marfan syndrome (PMID: 16835936). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. In summary, this variant has uncertain impact on TGFBR1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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