ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)

dbSNP: rs11541859
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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) RCV000075610 SCV000106607 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding variation resulting in premature termination codon
Myriad Genetics, Inc. RCV003451123 SCV004189701 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-12 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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