Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180150 | SCV001345018 | uncertain significance | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant inserts 2 nucleotides in exon 12 of the TMEM43 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). The role of TMEM43 truncation variants in cardiomyopathy is not clearly established. Available evidence is insufficient to determine the pathogenicity of this variant conclusively. |