Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003232202 | SCV001231102 | uncertain significance | Sotos syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln49*) in the NSD1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NSD1-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. |
Fulgent Genetics, |
RCV003232202 | SCV002785315 | uncertain significance | Sotos syndrome | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236864 | SCV003935430 | uncertain significance | not provided | 2022-12-21 | criteria provided, single submitter | clinical testing | Nonsense 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; Has not been previously published as pathogenic or benign to our knowledge |