ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)

dbSNP: rs878853955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226371 SCV000284652 uncertain significance Hypertrophic cardiomyopathy 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 58 of the TNNI3 protein (p.Lys58Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. ClinVar contains an entry for this variant (Variation ID: 237689). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000253395 SCV000318213 uncertain significance Cardiovascular phenotype 2023-08-28 criteria provided, single submitter clinical testing The p.K58R variant (also known as c.173A>G), located in coding exon 5 of the TNNI3 gene, results from an A to G substitution at nucleotide position 173. The lysine at codon 58 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001668391 SCV001888281 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000226371 SCV005425646 uncertain significance Hypertrophic cardiomyopathy 2024-04-25 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 58 of the TNNI3 protein. Computational prediction tools indicate that this variant's impact on protein structure and function is inconclusive. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TNNI3-related 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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