ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1113A>T (p.Glu371Asp) (rs149383809)

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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 RCV000567306 SCV000673638 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000161928 SCV000488100 uncertain significance Multiple endocrine neoplasia, type 1 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV000161928 SCV000211912 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 366 of the MEN1 protein (p.Glu366Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs149383809, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in individuals affected with multiple endocrine neoplasia type 1 (PMID: 16563611). ClinVar contains an entry for this variant (Variation ID: 183065). Experimental studies have shown that this missense change does not affect protein stability, however, the impact of this change on protein function was not assessed (PMID: 21819486). 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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