ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1013A>C (p.Asn338Thr) (rs863223821)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196560 SCV000250890 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing p.Asn338Thr (AAT>ACT): c.1013 A>C in exon 6 of the TGFBR1 gene (NM_004612.2) The N338T variant of unknown significance in the TGFBR1 gene has not been published as a mutation or as a benign polymorphism to our knowledge. The N338T 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. In addition, this substitution occurs at a position that is completely conserved across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the N338T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, only one missense mutation in a nearby residue (K335Q) has been reported in association with disease. 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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