ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)

gnomAD frequency: 0.00004  dbSNP: rs201050937
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190415 SCV001357896 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 364 of the TGFBR1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TGFBR1-related disorders in the literature. This variant has been identified in 4/282550 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.
GeneDx RCV001566721 SCV001790283 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001190415 SCV002108040 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504207 SCV002816091 uncertain significance Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-08-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010432 SCV004840415 uncertain significance Loeys-Dietz syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 364 of the TGFBR1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TGFBR1-related disorders in the literature. This variant has been identified in 4/282550 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.

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