ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.241C>T (p.Gln81Ter)

dbSNP: rs2147284889
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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 RCV001805678 SCV002053715 uncertain significance Cardiomyopathy 2021-04-19 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 5 of the TNNI3 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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 role of loss-of-function TNNI3 truncation and splice variants in autosomal dominant cardiovascular disorders is not clearly established. 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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