ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)

dbSNP: rs1554700672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551498 SCV000658859 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-10-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TGFBR1 are known to be pathogenic in the context of multiple self-healing squamous epithelioma (PMID: 21358634). This variant has not been reported in the literature in individuals with TGFBR1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly261*) in the TGFBR1 gene. It is expected to result in an absent or disrupted protein product.

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