ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp)

gnomAD frequency: 0.00001  dbSNP: rs201910738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000207996 SCV000264243 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-02-24 criteria provided, single submitter clinical testing
Klinisk genetik och genomik Research, Gothenburg University RCV000985274 SCV000995981 uncertain significance Craniosynostosis syndrome 2019-09-25 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000207996 SCV001354740 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-02-10 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 74 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). 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 been identified in 3/250906 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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