ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) (rs199706698)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148613 SCV000190328 uncertain significance Hyperparathyroidism 2014-06-01 no assertion criteria provided research
GeneKor MSA RCV000708708 SCV000822019 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000200394 SCV000255204 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 188 of the MEN1 protein (p.Pro188Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs199706698, ExAC 0.01%). This variant has been reported in an individual with non-familial primary hyperparathyroidism (PMID: 22187299). This variant is also known as 578C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 161295). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on MEN1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare 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

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