Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217686 | SCV001389535 | uncertain significance | Amyotrophic lateral sclerosis type 1 | 2023-05-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 946758). 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. This variant has not been reported in the literature in individuals affected with SOD1-related conditions. This variant is present in population databases (rs752237082, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Glu50Glyfs*39) in the SOD1 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 SOD1 cause disease. |