ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) (rs1554701447)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599086 SCV000710097 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing The c.873_876delCTTA variant of uncertain significance in the TGFBR1 gene has not been published as pathogenic or reported as benign to our knowledge. The c.873_876delCTTA variant is not observed in large population cohorts (Lek et al., 2016). This variant involves a deletion of four nucleotides that results in a premature stop codon at residue 291, denoted p.Y291X, and is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. The Human Gene Mutation Database reports some nonsense variants in association with multiple self-healing squamous epithelioma (MSSE) (Stenson et al., 2014), however loss of function is not an established disease mechanism for Loeys-Dietz syndrome (LDS).

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