Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002287128 | SCV002577206 | likely pathogenic | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002287128 | SCV003033375 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val295Phefs*2) in the GFM2 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 GFM2 cause disease. This variant is present in population databases (rs757683184, gnomAD 0.02%). 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 GFM2-related conditions. |