Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703796 | SCV000523631 | likely benign | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001191929 | SCV001359865 | likely benign | Cardiomyopathy | 2019-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002521638 | SCV003449721 | uncertain significance | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2022-07-29 | criteria provided, single submitter | clinical testing | This sequence change affects codon 11 of the TNNT2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TNNT2 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 383283). This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. This variant is present in population databases (rs148027842, gnomAD 0.01%). |