ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.670-7C>A (rs771297371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547893 SCV000628093 uncertain significance Multiple endocrine neoplasia, type 1 2018-02-18 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MEN1 gene. It does not directly change the encoded amino acid sequence of the MEN1 protein. This variant is present in population databases (rs771297371, ExAC 0.01%). This variant has been reported in an individual affected with a prolactin-secreting pituitary adenoma, and in six unaffected family members (PMID: 19391077). This variant is also known as IVS3-7C>A in the literature. ClinVar contains an entry for this variant (Variation ID: 457330). An experimental study has shown that this sequence change promotes the retention of the intronic region between exons 3 and 4 of the MEN1 gene and may affect protein stability (PMID: 19391077). The clinical significance of this result is uncertain. 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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