Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547887 | SCV000658856 | uncertain significance | Familial 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. |