ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg) (rs878853955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226371 SCV000284652 uncertain significance Hypertrophic cardiomyopathy 2020-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 58 of the TNNI3 protein (p.Lys58Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNNI3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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 2019-03-22 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, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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