ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760245 SCV000890079 pathogenic Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000760245 SCV000936246 pathogenic Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2021-08-24 criteria provided, single submitter clinical testing
3billion RCV000210889 SCV002058626 pathogenic Coffin-Lowry syndrome 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000225519, PMID:9837815). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
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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