ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1064+1G>C (rs1114167489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490962 SCV000579666 likely pathogenic Hereditary cancer-predisposing syndrome 2013-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000521633 SCV000617252 pathogenic not provided 2015-11-06 criteria provided, single submitter clinical testing The IVS7+1 G>C splice site variant in the MEN1 gene destroys the canonical splice donor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of MEN1

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