ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1366-1G>A (rs794728629)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227993 SCV000291278 pathogenic Multiple endocrine neoplasia, type 1 2019-10-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in the last intron (intron 9) of the MEN1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with clinical features of multiple endocrine neoplasia type 1 (PMID: 10617276, Invitae). ClinVar contains an entry for this variant (Variation ID: 241801). Disruption of this splice site has been reported to affect MEN1 protein function (PMID: 17185897). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that disruption of this splice site disrupts mRNA splicing (PMID: 17185897). For these reasons, this variant has been classified as Pathogenic.

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