ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1189G>T (p.Glu397Ter) (rs772588551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476658 SCV000541194 pathogenic Multiple endocrine neoplasia, type 1 2017-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 392 (p.Glu392*) of 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. This particular variant has been reported in the literature in a family and in unrelated individuals affected with multiple endocrine neoplasia type 1 (MEN1)-related cancers (PMID: 10534569, 9458074, 17853334) and in an individual affected with MEN1-related primary hyperparathyroidism (PMID: 27846313). This variant is also known as G1284T, 1284G>T and E392Stop in the literature. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000523599 SCV000616775 pathogenic not provided 2017-08-08 criteria provided, single submitter clinical testing The E392X variant in the MEN1 gene has previously been reported in at least one individual with a clinical diagnosis of multiple endocrine neoplasia type 1 (Schaaf et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E392X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we consider E392X to be pathogenic.

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