ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)

dbSNP: rs193922665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030550 SCV000053221 likely pathogenic Loeys-Dietz syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001179055 SCV001343636 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 104 of the TGFBR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TGFBR2-related disorders in the literature. This variant has been identified in 3/251060 chromosomes 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223764 SCV002501903 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV001179055 SCV003783261 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 104 of the TGFBR2 protein (p.Pro104Ser). This variant is present in population databases (rs193922665, gnomAD 0.006%). 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: 36868). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on TGFBR2 function. 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.

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