Article

A rare splice-site variant in cardiac troponin-T (<i>TNNT2)</i>: The need for ancestral diversity in genomic reference datasets

2024-02-11

Abstract excerpt

<h4>ABSTRACT</h4> The underrepresentation of different ancestry groups in large genomic datasets creates difficulties in interpreting the pathogenicity of monogenic variants. Genetic testing for individuals with non-European ancestry results in higher rates of uncertain variants and a greater risk of misclassification. We report a rare variant in the cardiac troponin T gene, TNNT2 ; NM_001001430.3: c.571-1G>A (rs4...

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Literature Corpus work: ec97f292-3440-5ac5-bf1d-b46d3fd4f0a1
DOI: 10.1101/2024.02.08.24302375

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