ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1366-9C>G (rs1592634740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801688 SCV000941478 uncertain significance Multiple endocrine neoplasia, type 1 2019-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the MEN1 gene. It does not directly change the encoded amino acid sequence of the MEN1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with multiple endocrine neoplasia type 1 in a single family (PMID: 17388795). Experimental studies have shown that this nucleotide change can disrupt RNA splicing, resulting in a premature translational stop signal and truncated protein (PMID: 17388795). 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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