Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685394 | SCV000812872 | uncertain significance | Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance | 2022-07-04 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 565755). This variant has not been reported in the literature in individuals affected with CHCHD10-related conditions. This variant is present in population databases (rs9153, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr104*) in the CHCHD10 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 CHCHD10 cause disease. |
Institute of Medical Genetics and Applied Genomics, |
RCV001268858 | SCV001448065 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |