ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) (rs869320705)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000760245 SCV000936246 pathogenic Coffin-Lowry syndrome; Mental retardation, X-linked 19 2018-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg305*) in the RPS6KA3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with Coffin–Lowry syndrome (PMID: 11180593, 15668050). ClinVar contains an entry for this variant (Variation ID: 225519). Loss-of-function variants in RPS6KA3 are known to be pathogenic (PMID: 11180593, 15668050). For these reasons, this variant has been classified as Pathogenic.
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000760245 SCV000890079 pathogenic Coffin-Lowry syndrome; Mental retardation, X-linked 19 2016-12-21 criteria provided, single submitter clinical testing
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM RCV000210889 SCV000267157 pathogenic Coffin-Lowry syndrome 2015-11-17 no assertion criteria provided clinical testing Premature stop codon formation

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