ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1969C>T (p.Gln657Ter) (rs1114167709)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491722 SCV000580149 pathogenic Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000494682 SCV000582359 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.1969C>T at the cDNA level and p.Gln657Ter (Q657X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000494682 SCV001134403 pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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