ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52_54GCG[12] (p.Ala24_Ala26dup) (rs11466445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465262 SCV000548343 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-10-01 criteria provided, single submitter clinical testing This sequence change inserts 9 nucleotides in exon 1 of the TGFBR1 mRNA (c.70_78dupGCGGCGGCG). This leads to the insertion of 3 amino acid residues in the TGFBR1 protein (p.Ala24_Ala26dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TGFBR1-related disease. In summary, this is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000478271 SCV000566958 likely benign not specified 2015-06-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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