ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)

dbSNP: rs1131691898
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493578 SCV000583097 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The E260K variant of uncertain significance in the TNNT2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E260K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Invitae RCV000646062 SCV000767819 uncertain significance Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-08-08 criteria provided, single submitter clinical testing 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. An algorithm developed specifically for the TNNT2 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). ClinVar contains an entry for this variant (Variation ID: 430315). This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 260 of the TNNT2 protein (p.Glu260Lys).
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV003319201 SCV003932386 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449389 SCV004180529 uncertain significance Dilated cardiomyopathy 1D 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449390 SCV004180530 uncertain significance Cardiomyopathy, familial restrictive, 3 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449388 SCV004180532 uncertain significance Hypertrophic cardiomyopathy 2 2023-04-11 criteria provided, single submitter clinical testing

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