ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.871_873del (p.Lys291del)

dbSNP: rs1699349663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296651 SCV001485622 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-30 criteria provided, single submitter clinical testing This variant, c.871_873del, results in the deletion of 1 amino acid(s) of the TGFBR2 protein (p.Lys291del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TGFBR2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV005002001 SCV005627572 likely pathogenic Loeys-Dietz syndrome 2 criteria provided, single submitter research A novel inframe deletion, c.871_873del in exon 4 of TGFBR2 was identified in heterozygous state in proband. Sanger validation and segregation analysis showed that the variant was present in heterozygous state in the proband and absent in her father and mother, confirming the de novo status of the variant in her. The variant is absent in homozygous and/or in heterozygous state in gnomAD (v4.1.0) and in our in-house database of 3384 exomes.

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