ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)

gnomAD frequency: 0.00001  dbSNP: rs781493730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205360 SCV000259918 likely benign Multiple endocrine neoplasia, type 1 2024-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025237 SCV001187390 likely benign Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237765 SCV002010450 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000205360 SCV004836538 uncertain significance Multiple endocrine neoplasia, type 1 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 214 of the MEN1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals in the MEN1 Universal Mutation Database (PMID: 12112656; http://www.umd.be/MEN1/). This variant has been identified in 6/251016 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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