ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.65G>A (p.Arg22His) (rs397516360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036310 SCV000059962 uncertain significance not specified 2010-11-10 criteria provided, single submitter clinical testing The Arg22His variant has not been reported in the literature. Arginine (Arg) at position 22 is not 100% conserved across different species (one mammalian speci es as well as distantly related species carry a different amino acid), reducing the likelihood that the change is pathogenic. Furthermore, the effect of the Arg 22His variant cannot be assessed because of the presence of another variant.
Invitae RCV000808735 SCV000948853 uncertain significance Hypertrophic cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 22 of the TNNI3 protein (p.Arg22His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 43398). 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: "Not Available"; 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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