Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001874828 | SCV002142368 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1372786). This variant is present in population databases (rs750224671, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr238*) in the TMEM70 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the TMEM70 protein. |