ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1284G>A (p.Trp428Ter) (rs1114167533)

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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 RCV000491108 SCV000579741 pathogenic Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756334 SCV000884111 pathogenic not provided 2017-08-16 criteria provided, single submitter clinical testing The MEN1 c.1269G>A; p.Trp423Ter variant (rs1114167533) has been described in the literature in an individual with multiple endocrine neoplasia type 1 (MEN 1) (Takagi 2006). It is reported in ClinVar (Variation ID: 428077), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database). This variant induces an early termination codon and is predicted to result in a truncated protein or absent transcript. Taken together, this variant is considered pathogenic. REFERENCES Link to ClinVar database for p.Trp423Ter: Takagi J et al. Multiple endocrine neoplasia type I and Cushing's syndrome due to an aggressive ACTH producing thymic carcinoid. Intern Med. 2006;45(2):81-6. Epub 2006 Feb 15.

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