ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.307-?_380+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239864 SCV000299147 pathogenic Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 4 of the MLH1 gene. This creates 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. Deletion of exon 4 has been reported in individuals and families with colorectal cancer and/or Lynch syndrome (PMID: 11857745, 14635101, 15942939). ClinVar contains an entry for this variant (Variation ID: 218024). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000201974 SCV000257095 pathogenic not provided no assertion criteria provided research

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