ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.767A>G (p.Glu256Gly)

dbSNP: rs730881109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159312 SCV000209258 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing Identified in an individual with dilated cardiomyopathy/ restrictive cardiomyopathy phenotype with TNNT2 p.(E107*)(phase unknown) in conjunction with other cardiogenetic variants in the published literature (PMID: 33906374); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 33906374)

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