ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1757C>G (p.Ser586Ter) (rs1114167854)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491644 SCV000580564 pathogenic Hereditary cancer-predisposing syndrome 2014-07-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657671 SCV000779420 pathogenic not provided 2016-09-16 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.1757C>G at the cDNA level and p.Ser586Ter (S586X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in an individual with Lynch syndrome and is considered pathogenic (De Lellis 2013).

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