ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.326-11A>G

dbSNP: rs1555943503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623700 SCV000742723 likely pathogenic Inborn genetic diseases 2017-08-16 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001798931 SCV004806417 likely pathogenic Coffin-Lowry syndrome 2024-03-25 criteria provided, single submitter clinical testing
GeneDx RCV004702205 SCV005201196 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing Reported in the literature in a patient with features of RPS6KA3-Related Coffin-Lowry Spectrum Disorder and functional studies demonstrate that this non-canonical splice site variant resulted in loss-of-function (PMID:11992250); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11992250)
OMIM RCV001798931 SCV000032662 pathogenic Coffin-Lowry syndrome 2002-06-01 no assertion criteria provided literature only

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