ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)

dbSNP: rs778921501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560572 SCV000628094 pathogenic Multiple endocrine neoplasia, type 1 2020-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 10534569, 17879353). This variant has been observed in an individual from a family with multiple endocrine neoplasia type 1 (PMID: 9709921). ClinVar contains an entry for this variant (Variation ID: 457331). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr227*) in the MEN1 gene. It is expected to result in an absent or disrupted protein product.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269815 SCV001450090 pathogenic not provided 2014-06-26 criteria provided, single submitter clinical testing

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