ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1173_1174del (p.Glu392fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999049 SCV005623330 pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing The MEN1 c.1173_1174del (p.Glu392Alafs*16) variant alters the translational reading frame of the MEN1 mRNA and causes the premature termination of MEN1 protein synthesis. This variant has not been reported in individuals with MEN1-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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