ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.307C>G (p.Arg103Gly) (rs397516344)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198680 SCV000254530 uncertain significance Hypertrophic cardiomyopathy 2015-03-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 103 of the TNNI3 protein (p.Arg103Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant has not been published in the literature and is not present in population databases. A computational algorithm designed to assess the pathogenicity of variants in TNNI3 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275) In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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