ClinVar Miner

Submissions for variant NM_001167618.2(MLH1):c.-193_-192delinsAT (rs63750903)

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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) RCV000075744 SCV000106751 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
GeneDx RCV000482203 SCV000566089 pathogenic not provided 2015-04-02 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted MLH1 c.531_532delGGinsAT at the cDNA level and p.Glu178Ter (E178X) at the protein level. The normal sequence, with the bases that are inserted in brackets, is ATTTT[delGG][insAT]AAGT. The combined deletion and insertion creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MLH1 c.531_532delGGinsAT has been reported in at least one individual with Lynch syndrome (Weber 1999, Yuan 2006). This variant is considered pathogenic.

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