ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) (rs141679530)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561706 SCV000673634 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000168243 SCV000487944 uncertain significance Multiple endocrine neoplasia, type 1 2015-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368793 SCV000373091 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276552 SCV000373092 uncertain significance Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168243 SCV000218913 uncertain significance Multiple endocrine neoplasia, type 1 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 512 of the MEN1 protein (p.Ser512Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs141679530, ExAC 0.04%). This variant has been reported in individuals in the Universal Mutation Database (PMID: 112112656). ClinVar contains an entry for this variant (Variation ID: 188265). 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.

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