ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.00009  dbSNP: rs143329068
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410523 SCV000488525 uncertain significance Multiple endocrine neoplasia, type 1 2016-04-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455664 SCV000539620 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband, multiple reports classify as non-pathogenic; ClinVar: 1 LB
Invitae RCV000410523 SCV000541235 likely benign Multiple endocrine neoplasia, type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000766972 SCV000568652 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with primary hyperparathyroidism (Jger et al., 2006); Published functional studies demonstrated that this variant did not significantly impact MEN1 protein expression (Shimazu et al., 2011); This variant is associated with the following publications: (PMID: 25637381, 19068082, 17879353, 9989505, 16563611, 21819486)
Ambry Genetics RCV000569499 SCV000673624 likely benign Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Mendelics RCV000410523 SCV001138344 benign Multiple endocrine neoplasia, type 1 2019-05-28 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000410523 SCV002584555 uncertain significance Multiple endocrine neoplasia, type 1 2022-08-15 criteria provided, single submitter clinical testing The MEN1 c.511C>T (p.Arg171Trp) missense change has a maximum subpopulation frequency of 0.028% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant was observed in a Danish individual with primary hyperparathyroidism (PMID: 16563611). The in silico tool REVEL predicts a deleterious effect on protein function, however functional studies indicate that this variant does not significantly reduce menin expression compared to the wild-type (PMID: 21819486). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153432 SCV003843281 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410523 SCV004018032 uncertain significance Multiple endocrine neoplasia, type 1 2023-04-17 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000455664 SCV004027124 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148612 SCV000190327 likely benign Hyperparathyroidism 2014-06-01 no assertion criteria provided research

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