ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1666del (p.Leu556fs) (rs794728645)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182443 SCV000234788 pathogenic not provided 2014-05-30 criteria provided, single submitter clinical testing p.Leu551SerfsX8 (L551SfsX8) : c.1651delC in exon 10 of the MEN1 gene (NM_130799.2). The normal sequence with the base that is deleted in braces is: AGTG{C}TCAC. The c.1651delC mutation in the MEN1 gene causes a frameshift starting with codon Leucine 551, changes this amino acid to a Serine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Leu551SerfsX8. This mutation is predicted to cause loss of normal protein function through protein truncation, as the last 60 normal amino acids of the MEN1 protein are replaced with 7 aberrant amino acids. Although this mutation has not been previously reported to our knowledge, its presence is consistent with the risk to develop features of multiple endocrine neoplasia type 1. The variant is found in MEN1 panel(s).

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