Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807329 | SCV000947376 | pathogenic | Coffin-Lowry syndrome; Intellectual disability, X-linked 19 | 2021-10-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with Coffin-Lowry syndrome (PMID: 11180593). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg243*) in the RPS6KA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPS6KA3 are known to be pathogenic (PMID: 9837815, 19888300). |
Gene |
RCV003442092 | SCV004169669 | pathogenic | not provided | 2023-10-02 | 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 9837815, 19888300, 11180593) |