ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu)

dbSNP: rs397516454
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Total submissions: 1
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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 RCV000825476 SCV000966778 likely pathogenic Primary dilated cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing The p.Asp88Glu (c.264T>A) variant in TNNT2 has been identified as a de novo change in 1 individual with infantile-onset DCM (LMM data), but was absent from large population studies. Additionally, a different variant resulting in the same amino acid change, c.264T>G, has been identified as a de novo change in another individual with infantile-onset DCM (LMM data). Computational prediction tools and conservation analysis suggest that the p.Asp88Glu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In addition, this variant is located in the last three bases of the exon, which is part of the 5’ splice region. While computational tools do not predict an impact on splicing, these tools may not accurately predict biological function. In summary, although additional studies are required to fully establish its clinical significance, the p.Asp88Glu (c.264T>A) variant meets criteria to be classified as likely pathogenic for autosomal dominant dilated cardiomyopathy. ACMG/AMP Criteria applied: PM2, PM6, PP3, PS1_Supporting.

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