ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) (rs122454127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000012421 SCV001423706 likely pathogenic Coffin-Lowry syndrome 2018-02-09 criteria provided, single submitter clinical testing [ACMG/AMP: PM1, PM2, PS4_Moderate, PP1, PP2, PP3] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], has previously been observed in multiple unrelated patients with the same phenotype [PS4_Moderate], has been shown to cosegregate with disease in multiple affected family members [PP1], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].
OMIM RCV000012421 SCV000032655 pathogenic Coffin-Lowry syndrome 1999-01-01 no assertion criteria provided literature only

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