ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) (rs863223807)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198438 SCV000250874 uncertain significance not provided 2013-11-15 criteria provided, single submitter clinical testing p.Leu196Phe (CTT>TTT): c.586 C>T in exon 4 of the TGFBR1 gene (NM_004612.2) The Leu196Phe variant in the TGFBR1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Leu196Phe variant is a conservative amino substitution as these residues share similar properties, and are least likely to impact secondary structure. However, the Leu196 residue is conserved across species. In silico analysis predicts Leu196Phe is probably damaging to the protein structure/function. Mutations in a nearby residue (Thr200Ile, Thr200Pro) have been reported in association with Loeys-Dietz syndrome, further supporting the functional importance of this region of the protein. Furthermore, the Leu196Phe variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if Leu196Phe is a disease-causing mutation or a rare benign variant. This variant was found in TAAD

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