ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.271G>A (p.Ala91Thr)

dbSNP: rs1568859108
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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 RCV001178784 SCV001343297 uncertain significance Cardiomyopathy 2020-04-27 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 91 of the TNNI3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 20086309), and in an individual affected with hypertrophic cardiomyopathy (Satyanarayana et al., 2013). This variant has been identified in 1/242568 chromosomes 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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