ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.742del (p.Asp248fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004522731 SCV005030473 pathogenic Hereditary cancer-predisposing syndrome 2023-09-21 criteria provided, single submitter clinical testing The c.742delG pathogenic mutation, located in coding exon 3 of the MEN1 gene, results from a deletion of one nucleotide at nucleotide position 742, causing a translational frameshift with a predicted alternate stop codon (p.D248Tfs*33). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with MEN1-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
All of Us Research Program, National Institutes of Health RCV004805645 SCV005427781 pathogenic Multiple endocrine neoplasia, type 1 2024-04-25 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 4 of the MEN1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with MEN1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MEN1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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