Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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) |