ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1795G>T (p.Gly599Ter) (rs756043669)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507042 SCV000604283 pathogenic not specified 2017-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000657686 SCV000779435 pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.1795G>T at the cDNA level and p.Gly599Ter (G599X) at the protein level. The substitution creates a nonsense variant, which changes a Glycine to a premature stop codon (GGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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