ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)

gnomAD frequency: 0.00005  dbSNP: rs199706698
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200394 SCV000255204 likely benign Multiple endocrine neoplasia, type 1 2024-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455592 SCV000539617 uncertain significance not specified 2016-03-29 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: Only reported in 1 proband; ExAC: 7/66574 European chromosomes
GeneKor MSA RCV000708708 SCV000822019 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708708 SCV001186352 benign Hereditary cancer-predisposing syndrome 2023-05-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003945177 SCV004757740 uncertain significance MEN1-related condition 2023-12-20 criteria provided, single submitter clinical testing The MEN1 c.578C>T variant is predicted to result in the amino acid substitution p.Pro193Leu. This variant has been reported in an individual with hyperparathyroidism (Starker et al. 2012. PubMed ID: 22187299); however, no evidence was provided to support its pathogenicity. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/161295/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CSER _CC_NCGL, University of Washington RCV000148613 SCV000190328 uncertain significance Hyperparathyroidism 2014-06-01 no assertion criteria provided research

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