ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1811_1812CT[1] (p.Leu605fs) (rs1555163017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530307 SCV000628069 uncertain significance Multiple endocrine neoplasia, type 1 2017-03-21 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides in exon 10 of the MEN1 mRNA (c.1798_1799delCT), causing a frameshift at codon 600 (p.Leu600Valfs*78). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acids of the MEN1 protein and to extend the protein by an additional 67 amino acids. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MEN1-related disease. This frameshift change partially disrupts the NLS2 domain (AAs 588-608) of the MEN1 protein, which is important for its DNA binding activity (PMID: 15331604, 16449969). However, the effect of this partial disruption on protein function is unknown. In summary, this variant is a novel frameshift variant in the final exon of MEN1 with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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