ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.487del (p.Asp163fs)

dbSNP: rs1827276619
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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 RCV001187461 SCV001354279 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-03-21 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant deletes 1 nucleotide in exon 3 of the TGFBR1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact 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 has not been identified in the general population by the Genome Aggregation Database (gnomAD). The role of TGFBR2 truncation variants in cardiovascular disorders is not clearly established. Available evidence is insufficient to determine the role of this variant in disease conclusively.
Revvity Omics, Revvity RCV003485685 SCV004238757 likely pathogenic Loeys-Dietz syndrome 1 2023-06-19 criteria provided, single submitter clinical testing

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