Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001774307 | SCV002002129 | uncertain significance | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Invitae | RCV002074017 | SCV002435938 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003533023 | SCV004359947 | uncertain significance | Cardiomyopathy | 2024-01-02 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the -13 position of intron 8 of the TNNT2 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TNNT2-related disorders in the literature. This variant has been identified in 6/282672 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. |
All of Us Research Program, |
RCV003533023 | SCV004814542 | uncertain significance | Cardiomyopathy | 2023-10-06 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the -13 position of intron 8 of the TNNT2 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/282672 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. |