Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177447 | SCV001341670 | uncertain significance | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant changes 1 nucleotide in exon 8 of the TMEM43 gene, creating a 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 has been identified in 1/246118 chromosomes in the general population 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. |
Invitae | RCV002558853 | SCV003293568 | uncertain significance | Arrhythmogenic right ventricular dysplasia 5 | 2023-01-15 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 919319). This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr233*) in the TMEM43 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMEM43 cause disease. |