ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)

dbSNP: rs886039419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255350 SCV000321886 pathogenic not provided 2019-08-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21252315)
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198769 SCV001369764 pathogenic Multiple endocrine neoplasia, type 1 2019-12-16 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198769 SCV005761451 pathogenic Multiple endocrine neoplasia, type 1 2024-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln400*) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple endocrine neoplasia type 1. (PMID: 12791038). This variant is also known as 1213 >T, Q405X. ClinVar contains an entry for this variant (Variation ID: 265240). For these reasons, this variant has been classified as Pathogenic.

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