ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) (rs1555939456)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000625970 SCV000746568 likely pathogenic Coffin-Lowry syndrome 2017-03-31 criteria provided, single submitter clinical testing Likely pathogenicity based on finding this de novo in a 21-year-old female with abnormal sleep, psychiatric features (schizophrenia, bipolar disorder, major depression, hypersomnolence), loss of academic skills, small stature, fluctuating thyroid function studies (possible Hashimoto), tachycardia and mild scoliosis

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