ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) (rs863224527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507111 SCV000604203 likely pathogenic not specified 2017-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491766 SCV000579740 likely pathogenic Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s)
Invitae RCV000199920 SCV000253967 pathogenic Multiple endocrine neoplasia, type 1 2015-01-22 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 555 of the MEN1 protein (p.Ser555Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant has been reported in patients affected with MEN1 (PMID: 9683585, 15254225) but is not present in population databases. Experimental studies have shown that the mutant protein is targeted for rapid proteasome degradation and the expression of the mutant protein is diminished (PMID: 21819486, 15254225). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000199920 SCV000838447 likely pathogenic Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing

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