ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.461-1G>A (rs1064793672)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487061 SCV000566743 pathogenic not provided 2015-05-22 criteria provided, single submitter clinical testing The c.446-1G>A splice site variant in the MEN1 gene destroys the canonical spliceacceptor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to anabnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormalprotein product if the message is used for protein translation. Although this variant hasnot been previously reported to our knowledge, we interpret it as pathogenic.

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