ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1559-?_1667+?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) RCV000075262 SCV000106248 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000462362 SCV000563816 pathogenic Lynch syndrome 2016-07-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 14 of the MLH1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic. A similar deletion has been reported in the literature in at least one individual from a family with hereditary nonpolyposis colorectal cancer (PMID: 14729822). For these reasons, this variant has been classified as Pathogenic.

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