ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)

dbSNP: rs1603425345
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Total submissions: 2
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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).
GeneDx 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)

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