ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.655-7C>A

dbSNP: rs771297371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547893 SCV000628093 uncertain significance Multiple endocrine neoplasia, type 1 2022-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs771297371, gnomAD 0.007%). This variant has been observed in individual(s) with prolactin-secreting pituitary adenoma (PMID: 19391077). This variant is also known as IVS3-7C>A. ClinVar contains an entry for this variant (Variation ID: 457330). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 19391077). 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. 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.
All of Us Research Program, National Institutes of Health RCV000547893 SCV005427784 uncertain significance Multiple endocrine neoplasia, type 1 2024-08-23 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -7 position of intron 3 of the MEN1 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. An RT-PCR study of this variant found an increased intensity of alternate mRNA products also found in the control sample (PMID: 19391077). This variant has been reported in individuals affected with a macroprolactinoma (PMID: 19391077). This variant has been identified in 1/250852 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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