ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.349G>T (p.Glu117Ter)

dbSNP: rs730881099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159287 SCV000209233 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.(E246G) (phase unknown) in conjunction with other cardiogenetic variants in the published literature (PMID: 33906374); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 27535533, 33906374)

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