ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1A>G (p.Met1Val) (rs386134250)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508430 SCV000604210 pathogenic not specified 2016-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491918 SCV000579617 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
GeneDx RCV000480514 SCV000566017 likely pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing The c.1 A>G variant in the MEN1 gene has previously been reported in at least one individual undergoing genetic testing for multiple endocrine neoplasia type 1 (Klein et al., 2005). This variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" to signify that it is not known if the loss of Met1 prevents all protein translation or if an abnormal protein is produced using an alternate Methionine codon. Based on currently available evidence, we consider c.1A>G to be a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded."
Integrated Genetics/Laboratory Corporation of America RCV000030198 SCV000052865 likely pathogenic Multiple endocrine neoplasia, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000030198 SCV000753247 likely pathogenic Multiple endocrine neoplasia, type 1 2017-11-02 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MEN1 mRNA. The next in-frame methionine is located at codon 228. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with multiple endocrine neoplasia (PMID: 28736585, 29036195). ClinVar contains an entry for this variant (Variation ID: 36525). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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