ClinVar Miner

Submissions for variant NM_001354624.1(MLH1):c.-25del (rs587778883)

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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) RCV000075103 SCV000106093 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000115450 SCV000149359 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing This deletion of one nucleotide in MLH1 is denoted c.1050delA at the cDNA level and p.Gly351AspfsX16 (G351DfsX16) at the protein level. The normal sequence, with the base that is deleted in brackets, is TACC[delA]GGAC. The deletion causes a frameshift which changes a Glycine to an Aspartic Acid at codon 351, and creates a premature stop codon at position 16 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.1050delA has been reported in at least three individuals who met Bethesda or Amsterdam Criteria for Lynch syndrome (Pastrello 2009, De Lellis 2013, Le 2017). We consider this variant to be pathogenic.

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