ClinVar Miner

Submissions for variant NM_001354621.1(MLH1):c.-139-2735dup (rs63750034)

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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) RCV000075892 SCV000106908 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000486051 SCV000568566 pathogenic not provided 2018-03-20 criteria provided, single submitter clinical testing This duplication of one nucleotide in MLH1 is denoted c.860dupA at the cDNA level and p.Asn287LysfsX20 (N287KfsX20) at the protein level. The normal sequence, with the base that is duplicated in braces, is CAAAA[A]CACA. The duplication causes a frameshift which changes an Asparagine to a Lysine at codon 287, and creates a premature stop codon at position 20 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MLH1 c.860dupA has been reported at least twice in association with Lynch syndrome (Domingo 2004, Niessen 2006). We consider this variant to be pathogenic.

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