ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.-2C>T (rs653534)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206434 SCV000259706 uncertain significance Multiple endocrine neoplasia, type 1 2015-07-31 criteria provided, single submitter clinical testing This sequence change falls in the 5' untranslated region of the MEN1 gene. It does not change the encoded amino acid sequence of the MEN1 protein. This variant is not present in population databases (rs653534, no frequency) and has not been published in the literature. In summary, this is a novel change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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