ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1039-?_1409+?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) RCV000075096 SCV000106078 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000075096 SCV000259849 pathogenic Lynch syndrome 2016-12-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 12 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. Deletions of exon 12 have been reported in several affected individuals and families, and are clearly defined as Lynch syndrome causative alleles (PMID: 8128251, 8751876, 15942939, 8776590). A particular deletion of exon 12 of the MLH1 gene is a known founder mutation in the French Canadian population (PMID: 19459153, 19690142). Because the breakpoints of this deletion are unknown, it is uncertain whether or not the sequence change identified in this individual is the founder mutation. For these reasons, this variant has been classified as Pathogenic.

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