ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) (rs201928445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000774233 SCV000907934 uncertain significance Cardiomyopathy 2020-03-24 criteria provided, single submitter clinical testing
Invitae RCV000812844 SCV000953172 uncertain significance Hypertrophic cardiomyopathy 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 31 of the TNNI3 protein (p.Thr31Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs201928445, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.

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