ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1858del (p.Glu620fs) (rs786203456)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166770 SCV000217583 pathogenic Hereditary cancer-predisposing syndrome 2017-11-28 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 RCV000657299 SCV000779030 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing This deletion of one nucleotide in MLH1 is denoted c.1858delG at the cDNA level and p.Glu620ArgfsX17 (E620RfsX17) at the protein level. The normal sequence, with the base that is deleted in brackets, is GGCT[delG]AGAT. The deletion causes a frameshift, which changes a Glutamic Acid to an Arginine at codon 620 and creates a premature stop codon at position 17 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.