ClinVar Miner

Submissions for variant NM_130799.2(MEN1):c.1174del (p.Glu392fs) (rs386134247)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255795 SCV000321884 likely pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The c.1174delG variant has been reported previously (as 1280delG) in association with multiple endocrine neoplasia type 1 (Agarwal et al., 1997). The c.1174delG variant causes a frameshift starting with codon Glutamic acid 392, changes this amino acid to a Serine residue and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Glu392SerfsX53. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1174delG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available evidence, c.1174delG is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital RCV000714231 SCV000834125 pathogenic Multiple endocrine neoplasia, type 1 2018-01-23 criteria provided, single submitter clinical testing

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