ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.610-7C>A

dbSNP: rs1658744962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178772 SCV001343284 uncertain significance Cardiomyopathy 2020-02-05 criteria provided, single submitter clinical testing This variant changes a single nucleotide in intron 12 of the TNNT2 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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