ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) (rs1060502046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473430 SCV000548347 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 234 of the TGFBR1 protein (p.Phe234Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Loeys–Dietz syndrome (PMID: 16928994). This variant has been reported in individuals in the Universal Mutation Database (www.umd.be/TGFBR1/). ClinVar contains an entry for this variant (Variation ID: 408572). 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 C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, 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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