ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1524+1G>A

dbSNP: rs727503475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152011 SCV000200578 likely pathogenic Loeys-Dietz syndrome 2014-06-26 criteria provided, single submitter clinical testing The c.1524+1G>A variant in TGFBR2 has not been previously reported in individual s with clinical features of Loeys-Dietz syndrome or in large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus s equence and is predicted to cause altered splicing leading to an abnormal or abs ent protein. In summary, this variant is likely pathogenic, although additional information such as segregation and functional analysis is needed to fully estab lish its clinical significance.
Invitae RCV002514933 SCV003525097 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-09 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 165395). This variant has been observed in individuals with clinical features of Loeys-Dietz syndrome (PMID: 24793577, 29543232; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 6 of the TGFBR2 gene. It does not directly change the encoded amino acid sequence of the TGFBR2 protein. It affects a nucleotide within the consensus splice site.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003335135 SCV004045870 pathogenic Loeys-Dietz syndrome 2 2023-04-26 criteria provided, single submitter clinical testing

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