ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.974-2A>G

dbSNP: rs1554701881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000614164 SCV004551639 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the TGFBR1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TGFBR1 are known to be pathogenic (PMID: 21358634). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with thoracic aortic aneurysm and dissection (PMID: 29543232; Invitae). ClinVar contains an entry for this variant (Variation ID: 517136). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV000614164 SCV000731246 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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