ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.454-?_545+?del

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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) RCV000075728 SCV000106725 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV001271103 SCV000299088 pathogenic Lynch syndrome 2015-11-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 6 of the MLH1 gene. This is predicted to create a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. Deletions of exon 6 have been reported in individuals with hereditary non-polyposis colorectal cancer (HNPCC) (PMID: 14728922, 18330910, 18792805, 12402334). For these reasons, this variant has been classified as Pathogenic.

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