ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.752_806-1129del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547887 SCV000658856 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-04-20 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing the last 19 amino acids of exon 4 and most of intron 4 of the TGFBR1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in an individual with a TGFBR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a novel partial exon 4 and intron 4 deletion. The impact of this deletion on TGFBR1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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