ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) (rs775267361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197880 SCV000250871 uncertain significance not provided 2013-07-23 criteria provided, single submitter clinical testing p.Val145Gly (GTC>GGC): c.434 T>G in exon 3 of the TGFBR1 gene (NM_004612.2) The Val145Gly variant in the TGFBR1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Val145Gly results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is class conserved in mammals. The Val145Gly 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. No mutations in nearby residues have been reported in association with Loeys-Dietz syndrome, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Val145Gly is a disease-causing mutation or a rare benign variant. This variant was found in TAAD

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