ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter) (rs1060502827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472175 SCV000550889 pathogenic Loeys-Dietz syndrome 4 2016-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 345 (p.Ser345*) of the TGFB3 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in TGFB3 are known to be pathogenic (PMID: 25835445). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000482373 SCV000573998 likely pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing The S345X likely pathogenic variant in the TGFB3 gene has not been published as pathogenic or been reported as benign to our knowledge. S345X is predicted to cause loss of normal protein function by protein truncation (loss of final 68 amino acids). Other nonsense and frameshift variants have been reported in the Human Gene Mutation Database in association with aortic aneurysms and dissections, including two variants downstream of S345X (Stenson et al., 2014). Furthermore, the S345X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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