ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.490A>G (p.Lys164Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286188 SCV002576097 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing Observed in an individual with hypertrophic cardiomyopathy (Walsh et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27532257)

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