ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.455T>A (p.Leu152Ter)

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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 RCV004999050 SCV005623342 pathogenic not provided 2024-02-08 criteria provided, single submitter clinical testing The MEN1 c.455T>A (p.Leu152*) variant has been reported in the published literature in a family with pituitary and pancreatic tumors (PMID: 23052745 (2013)). 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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