ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1479del (p.Lys493fs) (rs886039420)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255320 SCV000321889 pathogenic not provided 2015-12-02 criteria provided, single submitter clinical testing The c.1464delG pathogenic variant in the MEN1 gene has not been reported, to our knowledge, in the literature as a pathogenic variant nor as a benign variant. The deletion causes a frameshift starting with codon Lysine 488, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 71 of the new reading frame, denoted p.Lys488AsnfsX71. This variant is predicted to result in premature protein truncation. In addition, c.1464delG was not observed in approximately 5,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Ambry Genetics RCV000490970 SCV000579712 pathogenic Hereditary cancer-predisposing syndrome 2015-03-20 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)

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