ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3140G>A (p.Trp1047Ter) (rs1064794302)

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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 RCV000491172 SCV000580225 pathogenic Hereditary cancer-predisposing syndrome 2014-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
GeneDx RCV000481351 SCV000568725 pathogenic not provided 2017-02-14 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3140G>A at the cDNA level and p.Trp1047Ter (W1047X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), 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 at least one individual with early onset colorectal cancer (Chubb 2015) and is considered pathogenic.

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