ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1502del (p.Lys501fs) (rs1565637724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756337 SCV000884114 pathogenic not provided 2017-08-16 criteria provided, single submitter clinical testing The MEN1 c.1487delA; p.Lys496fs variant has not previously been described in the literature, but has been reported in the UMD-MEN1 database (see link). It is absent from general population databases (Exome Variant Server, Genome Aggregation Database). This variant creates a frameshift and is predicted to result in a truncated protein or absent transcript. Although this frameshift occurs in the terminal exon of MEN1, several downstream frameshifts have been reported as pathogenic (Giraud 1998, Klein 2005). Taken together, c.1487delA is considered pathogenic. REFERENCES Link to UMD-MEN1 database: Giraud S et al. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am J Hum Genet. 1998 Aug;63(2):455-67. Klein RD et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 2005 Feb;7(2):131-8.

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