ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter) (rs63750639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075473 SCV000106470 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000627203 SCV000748190 pathogenic not provided 2018-02-22 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.1998G>A at the cDNA level and p.Trp666Ter (W666X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>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 at least two individuals with a personal and family history of Lynch-related cancers (Rossi 2002, Taylor 2003) and is considered pathogenic.

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