ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1605del (p.Gly536fs) (rs886039421)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255871 SCV000321890 pathogenic not provided 2015-08-18 criteria provided, single submitter clinical testing The c.1590delA variant causes a frameshift starting with codon Glycine 531, changes this amino acid to a Valine residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Gly103ValfsX28. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1590delA 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. Therefore, we interpret c.1590delA to be a pathogenic variant.

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