ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1765-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216393 SCV001388189 pathogenic Coffin-Lowry syndrome; Mental retardation, X-linked 19 2019-07-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the RPS6KA3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of Coffin-Lowry syndrome (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPS6KA3 are known to be pathogenic (PMID: 9837815, 19888300). For these reasons, this variant has been classified as Pathogenic.

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