ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.599G>A (p.Gly200Glu) (rs878853957)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229066 SCV000284661 uncertain significance Hypertrophic cardiomyopathy 2016-02-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 200 of the TNNI3 protein (p.Gly200Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change is located within exon 8 of the TNNI3 protein and a high percentage of previously reported TNNI3 missense mutations have been found within either exon 7 or exon 8 (PMID: 15607392). These observations suggest that a novel missense substitution within this exon may affect protein function, but experiments have not been done to test this possibility. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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