Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721362 | SCV000531081 | likely benign | not provided | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003380561 | SCV004096972 | uncertain significance | Cardiovascular phenotype | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.-3A>G variant is located in the 5' untranslated region (5’ UTR) of the TNNT2 gene. This variant results from an A to G substitution 3 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004000502 | SCV004824743 | uncertain significance | Cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | This variant is located in the 5' untranslated region of the TNNT2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with hypertrophic cardiomyopathy (PMID: 28840316, 33495597). This variant has been identified in 8/282816 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |