ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1537C>A (p.Gln513Lys) (rs386833403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575663 SCV000673631 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000464409 SCV000541221 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 508 of the MEN1 protein (p.Gln508Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs386833403, ExAC 0.002%). This variant has been reported in an individual affected with anterior pituitary and pancreatic lesions (PMID: 17194968). ClinVar contains an entry for this variant (Variation ID: 403081). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455940 SCV000539615 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: Reported in 1 proband; ExAC: 1/51192 European chromosomes

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