ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.654+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061257 SCV001225993 likely pathogenic Multiple endocrine neoplasia, type 1 2019-02-08 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with multiple endocrine neopasia, type 1 (PMID: 10762295, 27904855, Invitae). This variant is also known as 764+3A>G or c.669+3A>G in the literature. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing and results in an in-frame loss of 35 amino acids in exon 3 (PMID: 10762295). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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