ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.848A>C (p.His283Pro) (rs1064796037)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485221 SCV000572413 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TGFBR1 gene. The H283P variant has been published in a patient with multiple aortic dissections and a family history of aortic dissections (Braverman et al., 2016); however, segregation data was not included. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H283P 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. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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