ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2098C>T (p.Gln700Ter) (rs1553664702)

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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 RCV000572907 SCV000669542 pathogenic Hereditary cancer-predisposing syndrome 2018-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657576 SCV000779313 pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.2098C>T at the cDNA level and p.Gln700Ter (Q700X) 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. This variant has been reported in at least one individual with Lynch syndrome (Giraldez 2010) and is considered pathogenic.

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