ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)

dbSNP: rs1603426295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004760327 SCV005369978 pathogenic not provided 2024-04-02 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); This variant is associated with the following publications: (PMID: 10094187, 16879200, 11180593, 34556655)
OMIM RCV000012422 SCV000032656 pathogenic Coffin-Lowry syndrome 1999-01-01 no assertion criteria provided literature only
Shieh Lab, University of California, San Francisco RCV000012422 SCV001441641 pathogenic Coffin-Lowry syndrome 2020-10-19 no assertion criteria provided research

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