ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) (rs587776865)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777702 SCV000913645 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-09-16 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular receptor domain of the TGFBR1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
OMIM RCV000022803 SCV000044092 risk factor Multiple self healing squamous epithelioma 2011-02-27 no assertion criteria provided literature only

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