ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.55A>G (p.Ile19Val)

gnomAD frequency: 0.00001  dbSNP: rs755862334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694571 SCV000823022 uncertain significance Hypertrophic cardiomyopathy 2018-02-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 19 of the TNNI3 protein (p.Ile19Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs755862334, ExAC 0.06%). This variant has not been reported in the literature in individuals with TNNI3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Diagnostics, LLC DBA Color Health RCV001191348 SCV001359129 likely benign Cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing

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