ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.927+2T>C (rs1555165256)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497734 SCV000589343 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The c.912+2T>C splice site variant in the MEN1 gene has been previously reported in at least one individual with hyperparathyroidism (Kong et al., 2016). This variant destroys the canonical splice donor site in intron 6, and is expected to cause abnormal gene splicing. Splice variants at the same canonical splice donor site (c.912+1G>A, c.912+1G>C) have been reported in association with multiple endocrine neoplasia type 1, supporting the functional importance of this region of the protein (Mutch et al., 1999; Klein et al., 2005). Based on currently available evidence, we consider c.912+1T>C to be pathogenic.

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