ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.168del (p.Asn57fs) (rs1060499990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460562 SCV000541226 pathogenic Multiple endocrine neoplasia, type 1 2016-11-25 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 2 of the MEN1 mRNA (c.168delC), causing a frameshift at codon 57. This creates a premature translational stop signal (p.Asn57Thrfs*62) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000486690 SCV000569368 likely pathogenic not provided 2016-09-12 criteria provided, single submitter clinical testing This deletion of one nucleotide in MEN1 is denoted c.168delC at the cDNA level and p.Asn57ThrfsX62 (N57TfsX62) at the protein level. The normal sequence, with the base that is deleted in braces, is CTAC[C]AACG. The deletion causes a frameshift, which changes an Asparagine to a Threonine at codon 57, and creates a premature stop codon at position 62 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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