ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) (rs863223832)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195572 SCV000250907 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing p.Ser287Phe (TCC>TTC): c.860 C>T in exon 5 of the TGFBR1 gene (NM_004612.2) The S287F variant of unknown significance in the TGFBR1 gene has not been published as a mutation or been reported as a benign polymorphism to our knowledge. The S287F 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. The S287F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Located within the protein kinase and cytoplasmic topological domain of TGFBR1, this substitution occurs at a position that is fully conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense mutations in nearby residues have been reported in association with TGFRB1-related disorder. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-1

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