ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu) (rs730881084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159254 SCV000209200 uncertain significance not provided 2013-07-29 criteria provided, single submitter clinical testing The Stop211Leu variant in the TNNI3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Stop211Leu was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Stop211Leu changes the normal Stop codon to a Leucine codon, leading to the addition of other amino acids at the C-terminal end of the TNNI3 protein. However, in the absence of mRNA studies, the functional consequence of the extension of the protein is unknown. The variant is found in DCM panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195633 SCV001366032 uncertain significance not specified 2019-06-11 criteria provided, single submitter clinical testing The p.X211LeuextX21 variant in TNNI3 has not been previously reported in individuals with cardiomyopathy but has been identified in 0.002% (2/128712) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). It has also been reported in ClinVar (Variation ID 181596). This stop loss variant changes the normal stop codon to a leucine (Leu), which is predicted to result in a 21 amino acid extension of the protein. The functional impact of this change is unclear. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4.

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