ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.-30G>A (rs770828281)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553481 SCV000658988 uncertain significance Loeys-Dietz syndrome 4 2018-01-15 criteria provided, single submitter clinical testing This sequence change falls in the 5' untranslated region (UTR) of the TGFB3 gene. It does not directly change the encoded amino acid sequence of the TGFB3 protein. This variant is present in population databases (rs770828281, ExAC 0.02%). This variant has been reported to segregate with arrhythmogenic right ventricular cardiomyopathy in a single family (PMID: 15639475). This variant is also known as -36G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 12474). Experimental studies have shown that this UTR change increases gene expression in vitro, although the clinical significance of this observation is uncertain (PMID: 15639475). In summary, this variant has uncertain impact on TGFB3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000013292 SCV000033539 pathogenic Arrhythmogenic right ventricular dysplasia, familial 1 2005-02-01 no assertion criteria provided literature only

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