Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001295967 | SCV001484920 | uncertain significance | not provided | 2020-05-27 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the TMEM5 gene (p.His369Thrfs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acids of the TMEM5 protein. This variant is present in population databases (rs759632078, ExAC 0.1%). This variant has not been reported in the literature in individuals with TMEM5-related disease. 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. |
Gene |
RCV001295967 | SCV001764626 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 75 amino acids are lost and replaced with 27 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |