ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) (rs745576967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000762567 SCV000250870 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing The V137I variant of unknown significance in the TGFBR1 gene has not been published as a mutation or reported as a benign polymorphism to our knowledge. The V137I variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V137 residue is conserved across mammalian species. However, the V137I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, definitive missense mutations in nearby residues have not been reported in association with a TGFBR1-related disorder, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762567 SCV000892899 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing

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