ClinVar Miner

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

dbSNP: 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 Diagnostics, LLC DBA Color Health RCV000777702 SCV000913645 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-20 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 52 of the TGFBR1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
OMIM RCV000022803 SCV000044092 risk factor Multiple self-healing squamous epithelioma 2011-02-27 no assertion criteria provided literature only

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