ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.94+6T>G

gnomAD frequency: 0.00001  dbSNP: rs1269699495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176921 SCV001341021 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-12 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the +6 position of intron 1 of the TGFBR2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with type B aortic dissection (PMID: 29510914). 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.
Invitae RCV001176921 SCV001387995 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change falls in intron 1 of the TGFBR2 gene. It does not directly change the encoded amino acid sequence of the TGFBR2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TGFBR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 918998).
GeneDx RCV002298880 SCV002588393 uncertain significance not provided 2022-04-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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