ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)

dbSNP: rs63750386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075370 SCV000106365 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985779 SCV001134298 pathogenic not provided 2019-04-14 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient in literature, and not found in general population data.
Sema4, Sema4 RCV002255277 SCV002528679 pathogenic Hereditary cancer-predisposing syndrome 2021-06-28 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV003451069 SCV004186356 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-24 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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