ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.890G>T (p.Trp297Leu)

dbSNP: rs727504247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522658 SCV000621751 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TNNT2 gene. The W287L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The W287L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the W287L variant.
All of Us Research Program, National Institutes of Health RCV004003647 SCV004842719 uncertain significance Cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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