ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1603-5A>G (rs1569194162)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702364 SCV000831216 uncertain significance Coffin-Lowry syndrome; Mental retardation, X-linked 19 2017-07-18 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the RPS6KA3 gene. It does not directly change the encoded amino acid sequence of the RPS6KA3 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Coffin-Lowry syndrome (PMID: 16306095). Experimental studies have shown that this variant creates a new acceptor splice site 4 nucleotides into the intron, and that this new splice site is utilized in a large fraction of the RPS6KA3 mRNA transcripts in cells derived from an affected individual (PMID: 16306095). This is expected to result in a frameshift, and a loss of protein expression from those transcripts. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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