ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1520dup (p.Leu509fs) (rs1555163591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485290 SCV000565947 pathogenic not provided 2015-03-13 criteria provided, single submitter clinical testing The c.1505dupA variant in the MEN1 gene causes a frameshift starting with codon Leucine 504, changesthis amino acid to a Proline residue and creates a premature Stop codon at position 27 of the new readingframe, denoted p.Leu504ProfsX27. This variant is predicted to cause loss of normal protein functionthrough protein truncation. Specifically, the last 107 residues are lost and replaced with 26 incorrect residues.The c.1505dupA variant was not observed in approximately 6,300 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. Although this duplication has not been previously reported to our knowledge, we interpret this as a pathogenic variant.

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