ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1563dup (p.Lys522fs) (rs761695866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182442 SCV000234787 pathogenic not provided 2014-02-24 criteria provided, single submitter clinical testing The c.1548dupG mutation in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (MEN1) (Bartsch et al., 1998). The normal sequence with the base that is inserted in braces is: CCGG{G}AAGC.The insertion causes a frameshift starting with codon Lysine 517, changes this amino acid to a Glutamic Acid residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Lys517GlufsX14. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in MEN1 panel(s).
Integrated Genetics/Laboratory Corporation of America RCV001174576 SCV001337754 pathogenic Multiple endocrine neoplasia, type 1 2020-01-09 criteria provided, single submitter clinical testing Variant summary: MEN1 c.1548dupG (p.Lys517GlufsX14) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.2e-06 in 239266 control chromosomes. c.1548dupG has been reported in the literature in individuals affected with Multiple Endocrine Neoplasia Type 1 (Barsch_1998, Cardinal_2006, Chiloiro_2019). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV001174576 SCV001425337 pathogenic Multiple endocrine neoplasia, type 1 2020-01-18 criteria provided, single submitter clinical testing

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