ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1022_1024dup (p.Glu341dup) (rs1114167529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491786 SCV000579734 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-12 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV001041721 SCV001205352 uncertain significance Multiple endocrine neoplasia, type 1 2019-11-26 criteria provided, single submitter clinical testing This variant, c.1007_1009dup, results in the insertion of 1 amino acid(s) to the MEN1 protein (p.Glu336dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 428073). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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